VCV000998155.3 - ClinVar

NM_020975.6(RET):c.99_100del (p.Asp34fs)

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(1)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

Pathogenic

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

NM_020975.6(RET):c.99_100del (p.Asp34fs)

Variation ID: 998155 Accession: VCV000998155.3

Type and length

Deletion, 2 bp

Location

Cytogenetic: 10q11.21 10: 43100483-43100484 (GRCh38) [ NCBI UCSC ] 10: 43595931-43595932 (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	Mar 7, 2021	Mar 7, 2021

HGVS

Nucleotide	Protein	Molecular consequence
NM_020975.6:c.99_100del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.	NP_066124.1:p.Asp34fs	frameshift
NM_020975.6:c.99_100delGG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.		frameshift
NM_000323.2:c.99_100delGG	NP_000314.1:p.Asp34Cysfs	frameshift
NM_001406743.1:c.99_100delGG	NP_001393672.1:p.Asp34Cysfs	frameshift
NM_001406744.1:c.99_100delGG	NP_001393673.1:p.Asp34Cysfs	frameshift
NM_001406759.1:c.99_100delGG	NP_001393688.1:p.Asp34Cysfs	frameshift
NM_001406760.1:c.99_100delGG	NP_001393689.1:p.Asp34Cysfs	frameshift
NM_001406761.1:c.99_100delGG	NP_001393690.1:p.Asp34Cysfs	frameshift
NM_001406762.1:c.99_100delGG	NP_001393691.1:p.Asp34Cysfs	frameshift
NM_001406763.1:c.99_100delGG	NP_001393692.1:p.Asp34Cysfs	frameshift
NM_001406764.1:c.99_100delGG	NP_001393693.1:p.Asp34Cysfs	frameshift
NM_001406765.1:c.99_100delGG	NP_001393694.1:p.Asp34Cysfs	frameshift
NM_001406766.1:c.99_100delGG	NP_001393695.1:p.Asp34Cysfs	frameshift
NM_001406767.1:c.99_100delGG	NP_001393696.1:p.Asp34Cysfs	frameshift
NM_001406768.1:c.99_100delGG	NP_001393697.1:p.Asp34Cysfs	frameshift
NM_001406769.1:c.99_100delGG	NP_001393698.1:p.Asp34Cysfs	frameshift
NM_001406770.1:c.99_100delGG	NP_001393699.1:p.Asp34Cysfs	frameshift
NM_001406771.1:c.99_100delGG	NP_001393700.1:p.Asp34Cysfs	frameshift
NM_001406772.1:c.99_100delGG	NP_001393701.1:p.Asp34Cysfs	frameshift
NM_001406773.1:c.99_100delGG	NP_001393702.1:p.Asp34Cysfs	frameshift
NM_001406774.1:c.99_100delGG	NP_001393703.1:p.Asp34Cysfs	frameshift
NM_001406775.1:c.99_100delGG	NP_001393704.1:p.Asp34Cysfs	frameshift
NM_001406776.1:c.99_100delGG	NP_001393705.1:p.Asp34Cysfs	frameshift
NM_001406777.1:c.99_100delGG	NP_001393706.1:p.Asp34Cysfs	frameshift
NM_001406778.1:c.99_100delGG	NP_001393707.1:p.Asp34Cysfs	frameshift
NM_001406779.1:c.99_100delGG	NP_001393708.1:p.Asp34Cysfs	frameshift
NM_001406780.1:c.99_100delGG	NP_001393709.1:p.Asp34Cysfs	frameshift
NM_001406781.1:c.99_100delGG	NP_001393710.1:p.Asp34Cysfs	frameshift
NM_001406782.1:c.99_100delGG	NP_001393711.1:p.Asp34Cysfs	frameshift
NM_001406783.1:c.99_100delGG	NP_001393712.1:p.Asp34Cysfs	frameshift
NM_001406785.1:c.99_100delGG	NP_001393714.1:p.Asp34Cysfs	frameshift
NM_001406786.1:c.99_100delGG	NP_001393715.1:p.Asp34Cysfs	frameshift
NM_001406787.1:c.99_100delGG	NP_001393716.1:p.Asp34Cysfs	frameshift
NM_001406788.1:c.99_100delGG	NP_001393717.1:p.Asp34Cysfs	frameshift
NM_001406789.1:c.99_100delGG	NP_001393718.1:p.Asp34Cysfs	frameshift
NM_001406790.1:c.99_100delGG	NP_001393719.1:p.Asp34Cysfs	frameshift
NM_001406791.1:c.99_100delGG	NP_001393720.1:p.Asp34Cysfs	frameshift
NM_020629.2:c.99_100delGG	NP_065680.1:p.Asp34Cysfs	frameshift
NM_020630.7:c.99_100delGG	NP_065681.1:p.Asp34Cysfs	frameshift
NC_000010.11:g.43100484_43100485del
NC_000010.10:g.43595932_43595933del
NG_007489.1:g.28416_28417del
LRG_518:g.28416_28417del
LRG_518t1:c.99_100del	LRG_518p1:p.Asp34Cysfs
LRG_518t2:c.99_100del	LRG_518p2:p.Asp34Cysfs

... more HGVS ... less HGVS

Protein change

D34fs

Other names

Canonical SPDI

NC_000010.11:43100482:GGG:G

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.

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

Links

dbSNP: rs1837613320 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.
RET		Sufficient evidence for dosage pathogenicity	No evidence available	GRCh38 GRCh37	3598	3720

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.
Colorectal cancer	Pathogenic (1)	no assertion criteria provided	-	RCV001293844.3

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.
Pathogenic (-)	no assertion criteria provided Method: case-control	Colorectal cancer Affected status: yes Allele origin: germline	Genomic Center, National Cancer Institute Accession: SCV001481775.1 First in ClinVar: Mar 07, 2021 Last updated: Mar 07, 2021	Sex: mixed Tissue: whole blood and tissue

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.

Citations for germline classification of this variant

There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1837613320 ...

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 Jul 17, 2023

ClinVar Genomic variation as it relates to human health

NM_020975.6(RET):c.99_100del (p.Asp34fs)

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for rs1837613320 ...