VCV000132777.10 - ClinVar

NM_007294.4(BRCA1):c.*1287C>T

Germline

Top reviewed classifications are shown here.

Submission summary:

7 submissions

7 submitters

3 conditions

Reviewed by expert panel

Benign

Jan 2015 by Evidence-based…

for Breast-ovarian cancer, familial 1

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_007294.4(BRCA1):c.*1287C>T

Variation ID: 132777 Accession: VCV000132777.10

Type and length

single nucleotide variant, 1 bp

Location

Cytogenetic: 17q21.31 17: 43044391 (GRCh38) [ NCBI UCSC ] 17: 41196408 (GRCh37) [ NCBI UCSC ]

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Jun 4, 2014	Oct 8, 2024	Jan 12, 2015

HGVS

Nucleotide	Protein	Molecular consequence
NM_007294.4:c.*1287C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		3 prime UTR
NM_001407571.1:c.*1287C>T
NM_001407581.1:c.*1287C>T
NM_001407582.1:c.*1287C>T
NM_001407583.1:c.*1287C>T
NM_001407585.1:c.*1287C>T
NM_001407587.1:c.*1287C>T
NM_001407590.1:c.*1287C>T
NM_001407591.1:c.*1287C>T
NM_001407593.1:c.*1287C>T
NM_001407594.1:c.*1287C>T
NM_001407596.1:c.*1287C>T
NM_001407597.1:c.*1287C>T
NM_001407598.1:c.*1287C>T
NM_001407602.1:c.*1287C>T
NM_001407603.1:c.*1287C>T
NM_001407605.1:c.*1287C>T
NM_001407610.1:c.*1287C>T
NM_001407611.1:c.*1287C>T
NM_001407612.1:c.*1287C>T
NM_001407613.1:c.*1287C>T
NM_001407614.1:c.*1287C>T
NM_001407615.1:c.*1287C>T
NM_001407616.1:c.*1287C>T
NM_001407617.1:c.*1287C>T
NM_001407618.1:c.*1287C>T
NM_001407619.1:c.*1287C>T
NM_001407620.1:c.*1287C>T
NM_001407621.1:c.*1287C>T
NM_001407622.1:c.*1287C>T
NM_001407623.1:c.*1287C>T
NM_001407624.1:c.*1287C>T
NM_001407625.1:c.*1287C>T
NM_001407626.1:c.*1287C>T
NM_001407627.1:c.*1287C>T
NM_001407628.1:c.*1287C>T
NM_001407629.1:c.*1287C>T
NM_001407630.1:c.*1287C>T
NM_001407631.1:c.*1287C>T
NM_001407632.1:c.*1287C>T
NM_001407633.1:c.*1287C>T
NM_001407634.1:c.*1287C>T
NM_001407635.1:c.*1287C>T
NM_001407636.1:c.*1287C>T
NM_001407637.1:c.*1287C>T
NM_001407638.1:c.*1287C>T
NM_001407639.1:c.*1287C>T
NM_001407640.1:c.*1287C>T
NM_001407641.1:c.*1287C>T
NM_001407642.1:c.*1287C>T
NM_001407644.1:c.*1287C>T
NM_001407645.1:c.*1287C>T
NM_001407646.1:c.*1287C>T
NM_001407647.1:c.*1287C>T
NM_001407648.1:c.*1287C>T
NM_001407649.1:c.*1287C>T
NM_001407652.1:c.*1287C>T
NM_001407653.1:c.*1287C>T
NM_001407654.1:c.*1287C>T
NM_001407655.1:c.*1287C>T
NM_001407656.1:c.*1287C>T
NM_001407657.1:c.*1287C>T
NM_001407658.1:c.*1287C>T
NM_001407659.1:c.*1287C>T
NM_001407660.1:c.*1287C>T
NM_001407661.1:c.*1287C>T
NM_001407662.1:c.*1287C>T
NM_001407663.1:c.*1287C>T
NM_001407664.1:c.*1287C>T
NM_001407665.1:c.*1287C>T
NM_001407666.1:c.*1287C>T
NM_001407667.1:c.*1287C>T
NM_001407668.1:c.*1287C>T
NM_001407669.1:c.*1287C>T
NM_001407670.1:c.*1287C>T
NM_001407671.1:c.*1287C>T
NM_001407672.1:c.*1287C>T
NM_001407673.1:c.*1287C>T
NM_001407674.1:c.*1287C>T
NM_001407675.1:c.*1287C>T
NM_001407676.1:c.*1287C>T
NM_001407677.1:c.*1287C>T
NM_001407678.1:c.*1287C>T
NM_001407679.1:c.*1287C>T
NM_001407680.1:c.*1287C>T
NM_001407681.1:c.*1287C>T
NM_001407682.1:c.*1287C>T
NM_001407683.1:c.*1287C>T
NM_001407684.1:c.*1287C>T
NM_001407685.1:c.*1287C>T
NM_001407686.1:c.*1287C>T
NM_001407687.1:c.*1287C>T
NM_001407688.1:c.*1287C>T
NM_001407689.1:c.*1287C>T
NM_001407690.1:c.*1287C>T
NM_001407691.1:c.*1287C>T
NM_001407692.1:c.*1287C>T
NM_001407694.1:c.*1287C>T
NM_001407695.1:c.*1287C>T
NM_001407696.1:c.*1287C>T
NM_001407697.1:c.*1287C>T
NM_001407698.1:c.*1287C>T
NM_001407724.1:c.*1287C>T
NM_001407725.1:c.*1287C>T
NM_001407726.1:c.*1287C>T
NM_001407727.1:c.*1287C>T
NM_001407728.1:c.*1287C>T
NM_001407729.1:c.*1287C>T
NM_001407730.1:c.*1287C>T
NM_001407731.1:c.*1287C>T
NM_001407732.1:c.*1287C>T
NM_001407733.1:c.*1287C>T
NM_001407734.1:c.*1287C>T
NM_001407735.1:c.*1287C>T
NM_001407736.1:c.*1287C>T
NM_001407737.1:c.*1287C>T
NM_001407738.1:c.*1287C>T
NM_001407739.1:c.*1287C>T
NM_001407740.1:c.*1287C>T
NM_001407741.1:c.*1287C>T
NM_001407742.1:c.*1287C>T
NM_001407743.1:c.*1287C>T
NM_001407744.1:c.*1287C>T
NM_001407745.1:c.*1287C>T
NM_001407746.1:c.*1287C>T
NM_001407747.1:c.*1287C>T
NM_001407748.1:c.*1287C>T
NM_001407749.1:c.*1287C>T
NM_001407750.1:c.*1287C>T
NM_001407751.1:c.*1287C>T
NM_001407752.1:c.*1287C>T
NM_001407838.1:c.*1287C>T
NM_001407839.1:c.*1287C>T
NM_001407841.1:c.*1287C>T
NM_001407842.1:c.*1287C>T
NM_001407843.1:c.*1287C>T
NM_001407844.1:c.*1287C>T
NM_001407845.1:c.*1287C>T
NM_001407846.1:c.*1287C>T
NM_001407847.1:c.*1287C>T
NM_001407848.1:c.*1287C>T
NM_001407849.1:c.*1287C>T
NM_001407850.1:c.*1287C>T
NM_001407851.1:c.*1287C>T
NM_001407852.1:c.*1287C>T
NM_001407853.1:c.*1287C>T
NM_001407854.1:c.*1393C>T
NM_001407858.1:c.*1393C>T
NM_001407859.1:c.*1393C>T
NM_001407860.1:c.*1393C>T
NM_001407861.1:c.*1393C>T
NM_001407862.1:c.*1287C>T
NM_001407863.1:c.*1287C>T
NM_001407874.1:c.*1287C>T
NM_001407875.1:c.*1287C>T
NM_001407879.1:c.*1287C>T
NM_001407881.1:c.*1287C>T
NM_001407882.1:c.*1287C>T
NM_001407884.1:c.*1287C>T
NM_001407885.1:c.*1287C>T
NM_001407886.1:c.*1287C>T
NM_001407887.1:c.*1287C>T
NM_001407889.1:c.*1287C>T
NM_001407894.1:c.*1287C>T
NM_001407895.1:c.*1287C>T
NM_001407896.1:c.*1287C>T
NM_001407897.1:c.*1287C>T
NM_001407898.1:c.*1287C>T
NM_001407899.1:c.*1287C>T
NM_001407900.1:c.*1287C>T
NM_001407902.1:c.*1287C>T
NM_001407904.1:c.*1287C>T
NM_001407906.1:c.*1287C>T
NM_001407907.1:c.*1287C>T
NM_001407908.1:c.*1287C>T
NM_001407909.1:c.*1287C>T
NM_001407910.1:c.*1287C>T
NM_001407915.1:c.*1287C>T
NM_001407916.1:c.*1287C>T
NM_001407917.1:c.*1287C>T
NM_001407918.1:c.*1287C>T
NM_001407919.1:c.*1287C>T
NM_001407920.1:c.*1287C>T
NM_001407921.1:c.*1287C>T
NM_001407922.1:c.*1287C>T
NM_001407923.1:c.*1287C>T
NM_001407924.1:c.*1287C>T
NM_001407925.1:c.*1287C>T
NM_001407926.1:c.*1287C>T
NM_001407927.1:c.*1287C>T
NM_001407928.1:c.*1287C>T
NM_001407929.1:c.*1287C>T
NM_001407930.1:c.*1287C>T
NM_001407931.1:c.*1287C>T
NM_001407932.1:c.*1287C>T
NM_001407933.1:c.*1287C>T
NM_001407934.1:c.*1287C>T
NM_001407935.1:c.*1287C>T
NM_001407936.1:c.*1287C>T
NM_001407937.1:c.*1393C>T
NM_001407938.1:c.*1393C>T
NM_001407939.1:c.*1393C>T
NM_001407940.1:c.*1393C>T
NM_001407941.1:c.*1393C>T
NM_001407942.1:c.*1393C>T
NM_001407943.1:c.*1393C>T
NM_001407944.1:c.*1393C>T
NM_001407945.1:c.*1393C>T
NM_001407946.1:c.*1287C>T
NM_001407947.1:c.*1287C>T
NM_001407948.1:c.*1287C>T
NM_001407949.1:c.*1287C>T
NM_001407950.1:c.*1287C>T
NM_001407951.1:c.*1287C>T
NM_001407952.1:c.*1287C>T
NM_001407953.1:c.*1287C>T
NM_001407954.1:c.*1287C>T
NM_001407955.1:c.*1287C>T
NM_001407956.1:c.*1287C>T
NM_001407957.1:c.*1287C>T
NM_001407958.1:c.*1287C>T
NM_001407959.1:c.*1287C>T
NM_001407960.1:c.*1287C>T
NM_001407962.1:c.*1287C>T
NM_001407963.1:c.*1287C>T
NM_001407964.1:c.*1287C>T
NM_001407965.1:c.*1287C>T
NM_001407966.1:c.*1287C>T
NM_001407967.1:c.*1287C>T
NM_001407968.1:c.*1287C>T
NM_001407969.1:c.*1287C>T
NM_001407970.1:c.*1287C>T
NM_001407971.1:c.*1287C>T
NM_001407972.1:c.*1287C>T
NM_001407973.1:c.*1287C>T
NM_001407974.1:c.*1287C>T
NM_001407975.1:c.*1287C>T
NM_001407976.1:c.*1287C>T
NM_001407977.1:c.*1287C>T
NM_001407978.1:c.*1287C>T
NM_001407979.1:c.*1287C>T
NM_001407980.1:c.*1287C>T
NM_001407981.1:c.*1287C>T
NM_001407982.1:c.*1287C>T
NM_001407983.1:c.*1287C>T
NM_001407984.1:c.*1287C>T
NM_001407985.1:c.*1287C>T
NM_001407986.1:c.*1287C>T
NM_001407990.1:c.*1287C>T
NM_001407991.1:c.*1287C>T
NM_001407992.1:c.*1287C>T
NM_001407993.1:c.*1287C>T
NM_001408392.1:c.*1287C>T
NM_001408396.1:c.*1287C>T
NM_001408397.1:c.*1287C>T
NM_001408398.1:c.*1287C>T
NM_001408399.1:c.*1287C>T
NM_001408400.1:c.*1287C>T
NM_001408401.1:c.*1287C>T
NM_001408402.1:c.*1287C>T
NM_001408403.1:c.*1287C>T
NM_001408404.1:c.*1287C>T
NM_001408406.1:c.*1287C>T
NM_001408407.1:c.*1287C>T
NM_001408408.1:c.*1287C>T
NM_001408409.1:c.*1287C>T
NM_001408410.1:c.*1287C>T
NM_001408411.1:c.*1287C>T
NM_001408412.1:c.*1287C>T
NM_001408413.1:c.*1287C>T
NM_001408414.1:c.*1287C>T
NM_001408415.1:c.*1287C>T
NM_001408416.1:c.*1287C>T
NM_001408418.1:c.*1287C>T
NM_001408419.1:c.*1287C>T
NM_001408420.1:c.*1287C>T
NM_001408421.1:c.*1287C>T
NM_001408422.1:c.*1287C>T
NM_001408423.1:c.*1287C>T
NM_001408424.1:c.*1287C>T
NM_001408425.1:c.*1287C>T
NM_001408426.1:c.*1287C>T
NM_001408427.1:c.*1287C>T
NM_001408428.1:c.*1287C>T
NM_001408429.1:c.*1287C>T
NM_001408430.1:c.*1287C>T
NM_001408431.1:c.*1287C>T
NM_001408432.1:c.*1287C>T
NM_001408433.1:c.*1287C>T
NM_001408434.1:c.*1287C>T
NM_001408435.1:c.*1287C>T
NM_001408436.1:c.*1287C>T
NM_001408437.1:c.*1287C>T
NM_001408438.1:c.*1287C>T
NM_001408439.1:c.*1287C>T
NM_001408440.1:c.*1287C>T
NM_001408441.1:c.*1287C>T
NM_001408442.1:c.*1287C>T
NM_001408443.1:c.*1287C>T
NM_001408444.1:c.*1287C>T
NM_001408445.1:c.*1287C>T
NM_001408446.1:c.*1287C>T
NM_001408447.1:c.*1287C>T
NM_001408448.1:c.*1287C>T
NM_001408450.1:c.*1287C>T
NM_001408451.1:c.*1287C>T
NM_001408452.1:c.*1287C>T
NM_001408453.1:c.*1287C>T
NM_001408454.1:c.*1287C>T
NM_001408455.1:c.*1287C>T
NM_001408456.1:c.*1287C>T
NM_001408457.1:c.*1287C>T
NM_001408458.1:c.*1287C>T
NM_001408459.1:c.*1287C>T
NM_001408460.1:c.*1287C>T
NM_001408461.1:c.*1287C>T
NM_001408462.1:c.*1287C>T
NM_001408463.1:c.*1287C>T
NM_001408464.1:c.*1287C>T
NM_001408465.1:c.*1287C>T
NM_001408466.1:c.*1287C>T
NM_001408467.1:c.*1287C>T
NM_001408468.1:c.*1287C>T
NM_001408469.1:c.*1287C>T
NM_001408470.1:c.*1287C>T
NM_001408472.1:c.*1393C>T
NM_001408473.1:c.*1393C>T
NM_001408474.1:c.*1287C>T
NM_001408475.1:c.*1287C>T
NM_001408476.1:c.*1287C>T
NM_001408478.1:c.*1287C>T
NM_001408479.1:c.*1287C>T
NM_001408480.1:c.*1287C>T
NM_001408481.1:c.*1287C>T
NM_001408482.1:c.*1287C>T
NM_001408483.1:c.*1287C>T
NM_001408484.1:c.*1287C>T
NM_001408485.1:c.*1287C>T
NM_001408489.1:c.*1287C>T
NM_001408490.1:c.*1287C>T
NM_001408491.1:c.*1287C>T
NM_001408492.1:c.*1287C>T
NM_001408493.1:c.*1287C>T
NM_001408494.1:c.*1287C>T
NM_001408495.1:c.*1287C>T
NM_001408496.1:c.*1287C>T
NM_001408497.1:c.*1287C>T
NM_001408498.1:c.*1287C>T
NM_001408499.1:c.*1287C>T
NM_001408500.1:c.*1287C>T
NM_001408501.1:c.*1287C>T
NM_001408502.1:c.*1287C>T
NM_001408503.1:c.*1287C>T
NM_001408504.1:c.*1287C>T
NM_001408505.1:c.*1287C>T
NM_001408506.1:c.*1287C>T
NM_001408507.1:c.*1287C>T
NM_001408508.1:c.*1287C>T
NM_001408509.1:c.*1287C>T
NM_001408510.1:c.*1287C>T
NM_001408511.1:c.*1287C>T
NM_001408512.1:c.*1287C>T
NM_001408513.1:c.*1287C>T
NM_001408514.1:c.*1287C>T
NM_007297.4:c.*1287C>T		3 prime UTR
NM_007298.4:c.*1287C>T
NM_007299.4:c.*1393C>T		3 prime UTR
NM_007300.4:c.*1287C>T		3 prime UTR
NM_007304.2:c.*1287C>T
NR_027676.2:n.7056C>T		non-coding transcript variant
NC_000017.11:g.43044391G>A
NC_000017.10:g.41196408G>A
NG_005905.2:g.173593C>T
LRG_292:g.173593C>T
LRG_292t1:c.*1287C>T

... more HGVS ... less HGVS

Protein change

Other names

6998 C>T

Canonical SPDI

NC_000017.11:43044390:G:A

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

0.34225 (A)

Allele frequency Help The frequency of the allele represented by this VCV record.

Trans-Omics for Precision Medicine (TOPMed) 0.29165

The Genome Aggregation Database (gnomAD) 0.30331

1000 Genomes Project 30x 0.33448

1000 Genomes Project 0.34225

The Genome Aggregation Database (gnomAD), exomes 0.34235

Exome Aggregation Consortium (ExAC) 0.44485

Links

ClinGen: CA000842 dbSNP: rs12516 VarSome

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
BRCA1		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	13050	14856

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Breast-ovarian cancer, familial, susceptibility to, 1	Benign (3)	reviewed by expert panel	Jan 12, 2015	RCV000119243.8
not specified	Benign (1)	criteria provided, single submitter	Nov 1, 2017	RCV000585679.2
not provided	Benign (3)	criteria provided, multiple submitters, no conflicts	Jun 14, 2019	RCV001689667.4

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
Benign (Jan 12, 2015)	reviewed by expert panel (ENIGMA BRCA1/2 Classification Criteria (2015)) Method: curation	Breast-ovarian cancer, familial 1 Affected status: unknown Allele origin: germline	Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Accession: SCV000244514.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015	Comment: Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3339 (Asian), 0.2114 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30).
Benign (Nov 01, 2017)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: clinical testing	not specified Affected status: yes Allele origin: germline	GeneKor MSA Accession: SCV000693620.1 First in ClinVar: Mar 04, 2018 Last updated: Mar 04, 2018
Benign (Jan 02, 2014)	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015)) Method: literature only	Breast-ovarian cancer, familial 1 (Autosomal dominant inheritance) Affected status: unknown Allele origin: unknown	Counsyl Accession: SCV000154006.2 First in ClinVar: Jun 04, 2014 Last updated: Dec 24, 2022	Comment: 1kG or ESP high frequency.
Benign (Jun 14, 2019)	criteria provided, single submitter (GeneDx Variant Classification Process June 2021) Method: clinical testing	Not Provided Affected status: yes Allele origin: germline	GeneDx Accession: SCV001910300.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021
Benign (Jan 12, 2018)	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019) Method: clinical testing	Breast-ovarian cancer, familial, susceptibility to, 1 Affected status: unknown Allele origin: germline	Illumina Laboratory Services, Illumina Accession: SCV000403034.3 First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020	Comment: This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more) This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. (less)
Benign (-)	criteria provided, single submitter (ACMG Guidelines, 2015) Method: not provided	not provided (Autosomal recessive inheritance) Affected status: yes Allele origin: germline	Breakthrough Genomics, Breakthrough Genomics Accession: SCV005250993.1 First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024
Likely risk allele (Oct 01, 2019)	no assertion criteria provided Method: research	not provided Affected status: yes Allele origin: unknown	School of Public Health, China Medical University Accession: SCV005326542.1 First in ClinVar: Oct 08, 2024 Last updated: Oct 08, 2024	Publications: pmc: 4812322 pmc: 4812322 Comment: Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3339 (Asian), 0.2114 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30).t Publications:pubmed … (more) Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3339 (Asian), 0.2114 (African), 0.3602 (European), derived from 1000 genomes (2012-04-30).t Publications:pubmed 33986610,32414209,29963045 (less)

Comment:

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

Germline Functional Evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Comment:

Citations for germline classification of this variant

Title	Author	Journal	Year	Link
Identification and frequency of the rs12516 and rs8176318 BRCA1 gene polymorphisms among different populations.	Yang F	Oncology letters	2016	PMC4812322

Text-mined citations for rs12516 ...

These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2024

ClinVar Genomic variation as it relates to human health

NM_007294.4(BRCA1):c.*1287C>T

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs12516 ...