U.S. flag

An official website of the United States government

NM_032043.3(BRIP1):c.3386C>A (p.Ser1129Tyr) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 18, 2024
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:
RCV001020156.4

Allele description [Variation Report for NM_032043.3(BRIP1):c.3386C>A (p.Ser1129Tyr)]

NM_032043.3(BRIP1):c.3386C>A (p.Ser1129Tyr)

Gene:
BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3386C>A (p.Ser1129Tyr)
HGVS:
  • NC_000017.11:g.61683660G>T
  • NG_007409.2:g.184900C>A
  • NM_032043.3:c.3386C>AMANE SELECT
  • NP_114432.2:p.Ser1129Tyr
  • LRG_300t1:c.3386C>A
  • LRG_300:g.184900C>A
  • NC_000017.10:g.59761021G>T
  • NM_032043.2:c.3386C>A
Protein change:
S1129Y
Links:
dbSNP: rs1603275152
NCBI 1000 Genomes Browser:
rs1603275152
Molecular consequence:
  • NM_032043.3:c.3386C>A - missense variant - [Sequence Ontology: SO:0001583]

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

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
SCV001181598Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 18, 2024) 		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, SCV001181598.5

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

Description

The p.S1129Y variant (also known as c.3386C>A), located in coding exon 19 of the BRIP1 gene, results from a C to A substitution at nucleotide position 3386. The serine at codon 1129 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024