NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly) AND Familial cancer of breast

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV000799096.7

Allele description [Variation Report for NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)]

NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.2281A>G (p.Ser761Gly)

HGVS:

NC_000002.12:g.214728729T>C
NG_012047.3:g.85983A>G
NM_000465.4:c.2281A>GMANE SELECT
NM_001282543.2:c.2224A>G
NM_001282545.2:c.928A>G
NM_001282548.2:c.871A>G
NM_001282549.2:c.742A>G
NP_000456.2:p.Ser761Gly
NP_001269472.1:p.Ser742Gly
NP_001269474.1:p.Ser310Gly
NP_001269477.1:p.Ser291Gly
NP_001269478.1:p.Ser248Gly
LRG_297t1:c.2281A>G
LRG_297:g.85983A>G
LRG_297p1:p.Ser761Gly
NC_000002.11:g.215593453T>C
NG_012047.2:g.85976A>G
NM_000465.2:c.2281A>G
NM_000465.3:c.2281A>G
NR_104212.2:n.2246A>G
NR_104215.2:n.2189A>G
NR_104216.2:n.1445A>G

Protein change:

S248G

Links:

dbSNP: rs1475472364

NCBI 1000 Genomes Browser:

rs1475472364

Molecular consequence:

NM_000465.4:c.2281A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.2224A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.928A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.871A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.742A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.2246A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.2189A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.1445A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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Paenibacillus montanisoli strain RA17, whole genome shotgun sequencing project
Paenibacillus montanisoli strain RA17, whole genome shotgun sequencing project
gi|1425853611|ref|NZ_QLUW00000000.1 LUW01000000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000938745	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 1, 2021)	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

SCV000938745

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 1, 2021)

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, SCV000938745.3

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

Description

This sequence change replaces serine with glycine at codon 761 of the BARD1 protein (p.Ser761Gly). The serine residue is moderately conserved and there is a small physicochemical difference between serine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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