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NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2024
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:
RCV004587065.1

Allele description [Variation Report for NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu)]

NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu)

Genes:
LOC129936436:ATAC-STARR-seq lymphoblastoid silent region 14183 [Gene]
CRTAP:cartilage associated protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.3
Genomic location:
Preferred name:
NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu)
HGVS:
  • NC_000003.12:g.33114115C>A
  • NG_008122.1:g.5158C>A
  • NM_006371.5:c.38C>AMANE SELECT
  • NP_006362.1:p.Ala13Glu
  • LRG_4t1:c.38C>A
  • LRG_4:g.5158C>A
  • NC_000003.11:g.33155607C>A
  • NC_000003.11:g.33155607C>A
  • NM_006371.4:c.38C>A
Protein change:
A13E
Links:
dbSNP: rs137853938
NCBI 1000 Genomes Browser:
rs137853938
Molecular consequence:
  • NM_006371.5:c.38C>A - 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
SCV005076350Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Apr 11, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G.

Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692.

PubMed [citation]
PMID:
19550437
PMCID:
PMC2987020

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005076350.1

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

Description

Variant summary: CRTAP c.38C>A (p.Ala13Glu) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.5e-05 in 132858 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.38C>A has been reported in the literature in at least one compound heterozygous individual affected with Osteogenesis Imperfecta Type III who carried two additional variants found in trans and cis to the variant (e.g. VanDijk_2009). This report does not provide unequivocal conclusions about association of the variant with Osteogenesis Imperfecta. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 19550437). ClinVar contains an entry for this variant (Variation ID: 937198). 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: Sep 29, 2024