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NM_080873.3(ASB11):c.871T>C (p.Cys291Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 11, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001255481.1

Allele description [Variation Report for NM_080873.3(ASB11):c.871T>C (p.Cys291Arg)]

NM_080873.3(ASB11):c.871T>C (p.Cys291Arg)

Gene:
ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_080873.3(ASB11):c.871T>C (p.Cys291Arg)
HGVS:
  • NC_000023.11:g.15283606A>G
  • NG_012627.1:g.37000T>C
  • NM_001012428.2:c.808T>C
  • NM_001201583.2:c.820T>C
  • NM_080873.3:c.871T>CMANE SELECT
  • NP_001012428.1:p.Cys270Arg
  • NP_001188512.1:p.Cys274Arg
  • NP_543149.1:p.Cys291Arg
  • NC_000023.10:g.15301728A>G
  • NM_080873.2:c.871T>C
Protein change:
C270R
Links:
dbSNP: rs772919113
NCBI 1000 Genomes Browser:
rs772919113
Molecular consequence:
  • NM_001012428.2:c.808T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001201583.2:c.820T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_080873.3:c.871T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001431900Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Aug 11, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001431900.1

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

Description

Variant summary: ASB11 c.871T>C (p.Cys291Arg) results in a non-conservative amino acid change located in the SOCS box domain (IPR001496) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.8e-05 in 205038 control chromosomes, including 2 hemizygotes (gnomAD). This frequency doesn't allow clear conclusions about variant significance. To our knowledge, no occurrence of c.871T>C in individuals affected with ASB11-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Apr 23, 2022