U.S. flag

An official website of the United States government

NM_007294.4(BRCA1):c.2299del (p.Ser767fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 3, 2018
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:
RCV000481946.1

Allele description

NM_007294.4(BRCA1):c.2299del (p.Ser767fs)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.2299del (p.Ser767fs)
HGVS:
  • NC_000017.11:g.43093232del
  • NG_005905.2:g.124752del
  • NM_007294.4:c.2299delMANE SELECT
  • NM_007297.4:c.2158del
  • NM_007299.4:c.787+1512del
  • NM_007300.4:c.2299del
  • NP_009225.1:p.Ser767fs
  • NP_009228.2:p.Ser720fs
  • NP_009231.2:p.Ser767fs
  • LRG_292:g.124752del
  • NC_000017.10:g.41245249del
  • NM_007294.3:c.2299delA
  • NM_007298.3:c.787+1512del
  • NR_027676.2:n.2476del
  • U14680.1:n.2418delA
  • p.S767AFS*25
Nucleotide change:
2418delA
Protein change:
S720fs
Links:
Breast Cancer Information Core (BIC) (BRCA1): 2418&base_change=del A; dbSNP: rs80357786
NCBI 1000 Genomes Browser:
rs80357786
Molecular consequence:
  • NM_007294.4:c.2299del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007297.4:c.2158del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007300.4:c.2299del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007299.4:c.787+1512del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_027676.2:n.2476del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000568419GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Apr 3, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000568419.3

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

Description

This deletion of one nucleotide in BRCA1 is denoted c.2299delA at the cDNA level and p.Ser767AlafsX25 (S767AfsX25) at the protein level. The normal sequence, with the base that is deleted in brackets, is GAGT[delA]GCAG. The deletion causes a frameshift which changes a Serine to an Alanine at codon 767, and creates a premature stop codon at position 25 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also known as BRCA1 2418delA, has been reported in multiple families with hereditary breast and ovarian cancer (Fetzer 1999, Tworek 1999, Ramus 2007, Zhang 2012). We consider this variant to be pathogenic.

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

Last Updated: Jun 18, 2022