NM_002878.4(RAD51D):c.437TCC[1] (p.Leu147del) AND Breast-ovarian cancer, familial, susceptibility to, 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000547907.4

Allele description [Variation Report for NM_002878.4(RAD51D):c.437TCC[1] (p.Leu147del)]

NM_002878.4(RAD51D):c.437TCC[1] (p.Leu147del)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

17q12

Genomic location:

Preferred name:

NM_002878.4(RAD51D):c.437TCC[1] (p.Leu147del)

HGVS:

NC_000017.11:g.35107028AGG[1]
NG_031858.1:g.17839TCC[1]
NM_001142571.2:c.497TCC[1]
NM_002878.4:c.437TCC[1]MANE SELECT
NM_133629.3:c.145-547_145-545del
NP_001136043.1:p.Leu167del
NP_002869.3:p.Leu147del
LRG_516:g.17839TCC[1]
NC_000017.10:g.33434045_33434047del
NC_000017.10:g.33434047AGG[1]
NM_002878.3:c.440_442delTCC
NR_037711.2:n.463TCC[1]

Protein change:

L147del

Links:

dbSNP: rs1555568303

NCBI 1000 Genomes Browser:

rs1555568303

Molecular consequence:

NM_001142571.2:c.497TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_002878.4:c.437TCC[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_133629.3:c.145-547_145-545del - intron variant - [Sequence Ontology: SO:0001627]
NR_037711.2:n.463TCC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Breast-ovarian cancer, familial, susceptibility to, 4
Synonyms:: Breast-ovarian cancer, familial 4
Identifiers:: MONDO: MONDO:0013669; MedGen: C3280345; Orphanet: 145; OMIM: 614291

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000651746	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 31, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000651746

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 31, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000651746.3

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

Description

In summary, this is a novel in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RAD51D-related disease. This sequence change deletes 3 nucleotides from exon 5 of the RAD51D mRNA (c.440_442delTCC). This leads to the deletion of 1 amino acid residue in the RAD51D protein (p.Leu147del) but otherwise preserves the integrity of the reading frame.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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