NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: Dec 2, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000212175.5

Allele description [Variation Report for NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)]

NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)

Gene:
BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala)
Other names:
p.T1242A:ACT>GCT
HGVS:
  • NC_000017.11:g.43091807T>C
  • NG_005905.2:g.126177A>G
  • NM_007294.4:c.3724A>GMANE SELECT
  • NM_007297.4:c.3583A>G
  • NM_007298.3:c.788-775A>G
  • NM_007299.4:c.788-775A>G
  • NM_007300.4:c.3724A>G
  • NP_009225.1:p.Thr1242Ala
  • NP_009225.1:p.Thr1242Ala
  • NP_009228.2:p.Thr1195Ala
  • NP_009231.2:p.Thr1242Ala
  • LRG_292t1:c.3724A>G
  • LRG_292:g.126177A>G
  • LRG_292p1:p.Thr1242Ala
  • NC_000017.10:g.41243824T>C
  • NM_007294.3:c.3724A>G
  • NR_027676.2:n.3901A>G
  • U14680.1:n.3843A>G
  • p.T1242A
Protein change:
T1195A
Links:
dbSNP: rs80357037
NCBI 1000 Genomes Browser:
rs80357037
Molecular consequence:
  • NM_007298.3:c.788-775A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007299.4:c.788-775A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007294.4:c.3724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007297.4:c.3583A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007300.4:c.3724A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_027676.2:n.3901A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000210154GeneDxcriteria provided, single submitter
Likely benign
(Dec 2, 2019)
germlineclinical testing

Citation Link,

SCV001151329CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000210154.12

#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; This variant is associated with the following publications: (PMID: 28993434, 16267036, 31131967)

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151329.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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