NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (6 submissions)
Last evaluated:: Aug 1, 2024
Review status:: criteria provided, conflicting classifications

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000656967.24

Allele description [Variation Report for NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)]

NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)

Genes:

RAD51D:RAD51 paralog D [Gene - OMIM - HGNC]
RAD51L3-RFFL:RAD51L3-RFFL readthrough [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)

Other names:

p.I311N:ATT>AAT

HGVS:

NC_000017.11:g.35101008A>T
NG_031858.1:g.23862T>A
NM_001142571.2:c.992T>A
NM_002878.4:c.932T>AMANE SELECT
NM_133629.3:c.596T>A
NP_001136043.1:p.Ile331Asn
NP_002869.3:p.Ile311Asn
NP_002869.3:p.Ile311Asn
NP_598332.1:p.Ile199Asn
LRG_516t1:c.932T>A
LRG_516:g.23862T>A
LRG_516p1:p.Ile311Asn
NC_000017.10:g.33428027A>T
NM_002878.3:c.932T>A
NR_037711.2:n.958T>A
NR_037712.2:n.823T>A
p.I311N

Protein change:

I199N

Links:

dbSNP: rs145309168

NCBI 1000 Genomes Browser:

rs145309168

Molecular consequence:

NM_001142571.2:c.992T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002878.4:c.932T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_133629.3:c.596T>A - missense variant - [Sequence Ontology: SO:0001583]
NR_037711.2:n.958T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_037712.2:n.823T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000149731	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 3, 2021)	germline	clinical testing	Citation Link,
SCV000602171	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Jan 22, 2021)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 28961279, 30111881, 22986143, 26824983, 26467025
SCV001250268	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Aug 1, 2024)	germline	clinical testing	Citation Link,
SCV002034333	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV002037488	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV005412694	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 17, 2024)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 22986143, 26824983, 29263802, 32255556, 33785725, 35264596, 25741868

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Sung PL, Wen KC, Chen YJ, Chao TC, Tsai YF, Tseng LM, Qiu JT, Chao KC, Wu HH, Chuang CM, Wang PH, Huang CF.

PLoS One. 2017;12(9):e0185615. doi: 10.1371/journal.pone.0185615.

PubMed [citation]

PMID:: 28961279
PMCID:: PMC5621677

Contribution of RAD51D germline mutations in breast and ovarian cancer in Greece.

Konstanta I, Fostira F, Apostolou P, Stratikos E, Kalfakakou D, Pampanos A, Kollia P, Papadimitriou C, Konstantopoulou I, Yannoukakos D.

J Hum Genet. 2018 Nov;63(11):1149-1158. doi: 10.1038/s10038-018-0498-8. Epub 2018 Aug 15.

PubMed [citation]

PMID:: 30111881

See all PubMed Citations (10)

Details of each submission

From GeneDx, SCV000149731.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22986143, 26824983, 32019284, 18951446, 28961279, 29263802, 29522266, 29338689, 30111881, 31159747, 31514334, 32255556, 32566746, 33785725, 32068069)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000602171.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001250268.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

RAD51D: BP4, BS1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV002034333.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV002037488.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mayo Clinic Laboratories, Mayo Clinic, SCV005412694.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

BS1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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