NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) AND Hereditary breast ovarian cancer syndrome

Clinical significance:Likely benign (Last evaluated: Dec 9, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

Help

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000812649.7

Allele description [Variation Report for NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)]

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=)

HGVS:

NC_000013.11:g.32340778T>G
NG_012772.3:g.30299T>G
NM_000059.4:c.6423T>GMANE SELECT
NP_000050.2:p.Gly2141=
NP_000050.3:p.Gly2141=
LRG_293t1:c.6423T>G
LRG_293:g.30299T>G
LRG_293p1:p.Gly2141=
NC_000013.10:g.32914915T>G
NM_000059.3:c.6423T>G

Links:

dbSNP: rs780721021

NCBI 1000 Genomes Browser:

rs780721021

Molecular consequence:

NM_000059.4:c.6423T>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145; OMIM: PS604370

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000952969	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Likely benign (Dec 9, 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

SCV000952969

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Likely benign
(Dec 9, 2021)

germline

clinical testing

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

Summary from all submissions

Help

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):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000952969.4

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

#	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: Nov 29, 2022

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