NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) AND not provided

Clinical significance:Benign/Likely benign (Last evaluated: Aug 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000444010.12

Allele description [Variation Report for NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)]

NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)

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.962T>G (p.Leu321Arg)
HGVS:
  • NC_000007.14:g.2542173A>C
  • NG_032167.1:g.18586T>G
  • NM_001350626.2:c.962T>G
  • NM_001350627.2:c.437T>G
  • NM_152743.4:c.962T>GMANE SELECT
  • NP_001337555.1:p.Leu321Arg
  • NP_001337556.1:p.Leu146Arg
  • NP_689956.2:p.Leu321Arg
  • NC_000007.13:g.2581807A>C
  • NM_152743.3:c.962T>G
  • NR_146879.2:n.1021T>G
Protein change:
L146R
Links:
dbSNP: rs150942467
NCBI 1000 Genomes Browser:
rs150942467
Molecular consequence:
  • NM_001350626.2:c.962T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350627.2:c.437T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152743.4:c.962T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146879.2:n.1021T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
6

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
SCV000511253Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Likely Benign
(Sep 12, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001143178Athena Diagnostics Inccriteria provided, single submitter
Likely benign
(Nov 14, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV001155003CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2021)
germlineclinical testing

Citation Link,

SCV001836971GeneDxcriteria provided, single submitter
Benign
(Sep 23, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing
not providedgermlineyes6not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Congenital methemoglobinemia type II in a 5-year-old boy.

Mannino EA, Pluim T, Wessler J, Cho MT, Juusola J, Schrier Vergano SA.

Clin Case Rep. 2018 Jan;6(1):170-178. doi: 10.1002/ccr3.1310.

PubMed [citation]
PMID:
29375859
PMCID:
PMC5771927
See all PubMed Citations (4)

Details of each submission

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511253.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Converted during submission to Likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.005795not providednot provided

From Athena Diagnostics Inc, SCV001143178.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001155003.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

From GeneDx, SCV001836971.1

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

Description

This variant is associated with the following publications: (PMID: 29375859)

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

Last Updated: Oct 8, 2021

Support Center