NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 11, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001564796.3

Allele description [Variation Report for NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)]

NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)

Gene:
BRAT1:BRCA1 associated ATM activator 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p22.3
Genomic location:
Preferred name:
NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)
HGVS:
  • NC_000007.14:g.2541456G>A
  • NG_032167.1:g.19303C>T
  • NM_001350626.2:c.1163C>T
  • NM_001350627.2:c.638C>T
  • NM_152743.4:c.1163C>TMANE SELECT
  • NP_001337555.1:p.Ala388Val
  • NP_001337556.1:p.Ala213Val
  • NP_689956.2:p.Ala388Val
  • NC_000007.13:g.2581090G>A
  • NM_152743.3:c.1163C>T
  • NR_146879.2:n.1222C>T
Protein change:
A213V
Molecular consequence:
  • NM_001350626.2:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350627.2:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152743.4:c.1163C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146879.2:n.1222C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001788014GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 11, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001788014.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Sep 29, 2021

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