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NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser) AND Familial cancer of breast

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 27, 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:
RCV003316743.1

Allele description [Variation Report for NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)]

NM_032043.3(BRIP1):c.1109A>G (p.Asn370Ser)

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.1109A>G (p.Asn370Ser)
HGVS:
  • NC_000017.11:g.61801284T>C
  • NG_007409.2:g.67276A>G
  • NM_032043.3:c.1109A>GMANE SELECT
  • NP_114432.2:p.Asn370Ser
  • NP_114432.2:p.Asn370Ser
  • LRG_300t1:c.1109A>G
  • LRG_300:g.67276A>G
  • LRG_300p1:p.Asn370Ser
  • NC_000017.10:g.59878645T>C
  • NM_032043.2:c.1109A>G
Protein change:
N370S
Links:
dbSNP: rs777511615
NCBI 1000 Genomes Browser:
rs777511615
Molecular consequence:
  • NM_032043.3:c.1109A>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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004019293Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))
Uncertain significance
(Feb 27, 2023)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004019293.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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

Last Updated: Sep 29, 2024