NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001545825.2

Allele description [Variation Report for NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)]

NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)

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.2340C>G (p.Asp780Glu)
HGVS:
  • NC_000007.14:g.2538195G>C
  • NG_032167.1:g.22564C>G
  • NM_001350626.2:c.2520C>G
  • NM_001350627.2:c.1815C>G
  • NM_152743.4:c.2340C>GMANE SELECT
  • NP_001337555.1:p.Asp840Glu
  • NP_001337556.1:p.Asp605Glu
  • NP_689956.2:p.Asp780Glu
  • NC_000007.13:g.2577829G>C
  • NM_152743.3:c.2340C>G
  • NR_146879.2:n.2523C>G
Protein change:
D605E
Links:
dbSNP: rs201045158
NCBI 1000 Genomes Browser:
rs201045158
Molecular consequence:
  • NM_001350626.2:c.2520C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350627.2:c.1815C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152743.4:c.2340C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146879.2:n.2523C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001765231GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 16, 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, SCV001765231.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; 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 23, 2021

Support Center