NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) AND not specified

Clinical significance:Benign (Last evaluated: Apr 30, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000155126.4

Allele description [Variation Report for NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)]

NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)

Gene:
GRXCR1:glutaredoxin and cysteine rich domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p13
Genomic location:
Preferred name:
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val)
HGVS:
  • NC_000004.12:g.42893538G>T
  • NG_027718.1:g.5273G>T
  • NM_001080476.2:c.272G>T
  • NM_001080476.3:c.272G>TMANE SELECT
  • NP_001073945.1:p.Gly91Val
  • NP_001073945.1:p.Gly91Val
  • A8MXD5:p.Gly91Val
  • NC_000004.11:g.42895555G>T
Protein change:
G91V
Links:
UniProtKB: A8MXD5#VAR_063163; dbSNP: rs113203706
NCBI 1000 Genomes Browser:
rs113203706
Molecular consequence:
  • NM_001080476.2:c.272G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080476.3:c.272G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
11

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000204812Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided1111not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000204812.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided11not providednot providedclinical testing PubMed (1)

Description

Gly91Val in Exon 01 of GRXCR1: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% (25/6762) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs113203706).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided11not provided11not provided

Last Updated: Nov 27, 2021

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