NM_198270.4(NHS):c.152C>T (p.Ala51Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764867.1

Allele description [Variation Report for NM_198270.4(NHS):c.152C>T (p.Ala51Val)]

NM_198270.4(NHS):c.152C>T (p.Ala51Val)

Gene:
NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_198270.4(NHS):c.152C>T (p.Ala51Val)
HGVS:
  • NC_000023.11:g.17375909C>T
  • NG_011553.2:g.5490C>T
  • NM_001291867.2:c.152C>T
  • NM_198270.4:c.152C>T
  • NP_001278796.1:p.Ala51Val
  • NP_938011.1:p.Ala51Val
  • NP_938011.1:p.Ala51Val
  • NC_000023.10:g.17394032C>T
  • NM_198270.2:c.152C>T
Protein change:
A51V
Links:
dbSNP: rs727504039
NCBI 1000 Genomes Browser:
rs727504039
Molecular consequence:
  • NM_001291867.2:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198270.4:c.152C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nance-Horan syndrome (NHS)
Identifiers:
MedGen: C0796085; Orphanet: 627; OMIM: 302350
Name:
Cataract 40 (CTRCT40)
Synonyms:
CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; Cataract, congenital, X-linked; CATARACT 40 WITH OR WITHOUT MICROCORNEA; See all synonyms [MedGen]
Identifiers:
Gene: 907; MedGen: C4049004; Orphanet: 91492; OMIM: 302200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000896023Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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

Details of each submission

From Fulgent Genetics,Fulgent Genetics, SCV000896023.1

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

Last Updated: Aug 17, 2019

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