NM_004937.2(CTNS):c.124G>A (p.Val42Ile) AND not provided

Clinical significance:Benign (Last evaluated: Oct 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000440461.1

Allele description

NM_004937.2(CTNS):c.124G>A (p.Val42Ile)

Gene:
CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_004937.2(CTNS):c.124G>A (p.Val42Ile)
HGVS:
  • NC_000017.11:g.3647506G>A
  • NG_012489.1:g.16039G>A
  • NM_001031681.2:c.124G>A
  • NM_004937.2:c.124G>A
  • NP_001026851.2:p.Val42Ile
  • NP_004928.2:p.Val42Ile
  • NC_000017.10:g.3550800G>A
  • O60931:p.Val42Ile
Protein change:
V42I; VAL42ILE
Links:
UniProtKB: O60931#VAR_010285; OMIM: 606272.0007; dbSNP: rs35086888
GMAF:
0.0176(A), 35086888
NCBI 1000 Genomes Browser:
rs35086888
Allele Frequency:
0.00545(A), GO-ESP
Molecular consequence:
  • NM_001031681.2:c.124G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511221Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Benign
(Oct 11, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot 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 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.004666not providednot provided

Last Updated: Jul 21, 2018