U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.212+1G>A AND Hereditary cancer-predisposing syndrome

Clinical significance:Pathogenic (Last evaluated: Mar 11, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000509688.2

Allele description

NM_007294.4(BRCA1):c.212+1G>A

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.212+1G>A
Other names:
IVS5+1G>Adel22; U14680.1:n.331+1G>A,del22
HGVS:
  • NC_000017.11:g.43106455C>T
  • NG_005905.2:g.111529G>A
  • NM_007294.3:c.212+1G>A
  • NM_007294.4:c.212+1G>A
  • NM_007297.4:c.71+1G>A
  • NM_007298.3:c.212+1G>A
  • NM_007299.4:c.212+1G>A
  • NM_007300.4:c.212+1G>A
  • LRG_292t1:c.212+1G>A
  • LRG_292:g.111529G>A
  • NC_000017.10:g.41258472C>T
  • U14680.1:n.331+1G>A
Nucleotide change:
IVS5+1G>A
Links:
Breast Cancer Information Core (BIC) (BRCA1): 331+1&base_change=G to A; dbSNP: rs80358042
NCBI 1000 Genomes Browser:
rs80358042
Molecular consequence:
  • NM_007294.3:c.212+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007294.4:c.212+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007297.4:c.71+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007298.3:c.212+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007299.4:c.212+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_007300.4:c.212+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Functional consequence:
  • cryptic splice donor activation [PubMedVariation Ontology: 0374] - Comment(s)
  • functionally_abnormal [Sequence Ontology: SO:0002218] - Comment(s)
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000607763Ambry Geneticscriteria provided, single submitter
Pathogenic
(Mar 11, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000683014Colorcriteria provided, single submitter
Pathogenic
(Nov 7, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]
PMID:
30209399
PMCID:
PMC6181777

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Rebbeck TR, Friebel TM, Friedman E, Hamann U, Huo D, Kwong A, Olah E, Olopade OI, Solano AR, Teo SH, Thomassen M, Weitzel JN, Chan TL, Couch FJ, Goldgar DE, Kruse TA, Palmero EI, Park SK, Torres D, van Rensburg EJ, McGuffog L, Parsons MT, et al.

Hum Mutat. 2018 May;39(5):593-620. doi: 10.1002/humu.23406. Epub 2018 Mar 12.

PubMed [citation]
PMID:
29446198
PMCID:
PMC5903938
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000607763.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Functionally-validated splicing mutation;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

From Color, SCV000683014.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 13, 2020