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NM_000059.4(BRCA2):c.2973C>T (p.Asn991=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 12, 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:
RCV002442122.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.2973C>T (p.Asn991=)]

NM_000059.4(BRCA2):c.2973C>T (p.Asn991=)

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.2973C>T (p.Asn991=)
HGVS:
  • NC_000013.11:g.32337328C>T
  • NG_012772.3:g.26849C>T
  • NM_000059.4:c.2973C>TMANE SELECT
  • NM_001406719.1:c.2973C>T
  • NM_001406720.1:c.2973C>T
  • NM_001406721.1:c.1909+3941C>T
  • NM_001406722.1:c.424+6298C>T
  • NP_000050.2:p.Asn991=
  • NP_000050.3:p.Asn991=
  • NP_001393648.1:p.Asn991=
  • NP_001393649.1:p.Asn991=
  • LRG_293t1:c.2973C>T
  • LRG_293:g.26849C>T
  • LRG_293p1:p.Asn991=
  • NC_000013.10:g.32911465C>T
  • NM_000059.3:c.2973C>T
  • NR_176251.1:n.3172C>T
Molecular consequence:
  • NM_001406721.1:c.1909+3941C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001406722.1:c.424+6298C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NR_176251.1:n.3172C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000059.4:c.2973C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406719.1:c.2973C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001406720.1:c.2973C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

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  • Quinidine
    Quinidine
    An optical isomer of quinine, extracted from the bark of the CHINCHONA tree and similar plant species. This alkaloid dampens the excitability of cardiac and skeletal muscles b...<br/>
    MeSH
  • Theobromine
    Theobromine
    3,7-Dimethylxanthine. The principle alkaloid in Theobroma cacao (the cacao bean) and other plants. A xanthine alkaloid that is used as a bronchodilator and as a vasodilator. I...<br/>
    MeSH
  • Ryanodine
    Ryanodine
    A methylpyrrole-carboxylate from RYANIA that disrupts the RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL to modify CALCIUM release from SARCOPLASMIC RETICULUM resulting in alterat...<br/>Year introduced: 1991(1975)
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  • Ergot Alkaloids
    Ergot Alkaloids
    Alkaloids originally isolated from the ergot fungus Claviceps purpurea (Hypocreaceae). They include compounds that are structurally related to ergoline (ERGOLINES) and ergotam...<br/>
    MeSH
  • Monocrotaline
    Monocrotaline
    A pyrrolizidine alkaloid and a toxic plant constituent that poisons livestock and humans through the ingestion of contaminated grains and other foods. The alkaloid causes pulm...<br/>Year introduced: 1992
    MeSH

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002749195Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 12, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002749195.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024