U.S. flag

An official website of the United States government

NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 2023
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:
RCV003153616.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)]

NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)

Gene:
BRIP1:BRCA1 interacting DNA helicase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.2
Genomic location:
Preferred name:
NM_032043.3(BRIP1):c.3353A>G (p.Asn1118Ser)
HGVS:
  • NC_000017.11:g.61683693T>C
  • NG_007409.2:g.184867A>G
  • NM_032043.3:c.3353A>GMANE SELECT
  • NP_114432.2:p.Asn1118Ser
  • NP_114432.2:p.Asn1118Ser
  • LRG_300t1:c.3353A>G
  • LRG_300:g.184867A>G
  • LRG_300p1:p.Asn1118Ser
  • NC_000017.10:g.59761054T>C
  • NM_032043.2:c.3353A>G
Protein change:
N1118S
Links:
dbSNP: rs1060501773
NCBI 1000 Genomes Browser:
rs1060501773
Molecular consequence:
  • NM_032043.3:c.3353A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial cancer of breast
Synonyms:
Breast cancer, familial; Hereditary breast cancer
Identifiers:
MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

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
SCV003843188St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jan 9, 2023) 		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 St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV003843188.1

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

Description

The BRIP1 c.3353A>G (p.Asn1118Ser) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with hereditary breast and ovarian cancer syndrome or Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: Sep 29, 2024