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NM_000088.4(COL1A1):c.790A>T (p.Met264Leu) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 2021
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:
RCV001762945.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.790A>T (p.Met264Leu)]

NM_000088.4(COL1A1):c.790A>T (p.Met264Leu)

Genes:
LOC126862586:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 [Gene]
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.790A>T (p.Met264Leu)
HGVS:
  • NC_000017.11:g.50197024T>A
  • NG_007400.1:g.9616A>T
  • NM_000088.4:c.790A>TMANE SELECT
  • NP_000079.2:p.Met264Leu
  • LRG_1t1:c.790A>T
  • LRG_1:g.9616A>T
  • NC_000017.10:g.48274385T>A
  • NM_000088.3:c.790A>T
Protein change:
M264L
Links:
dbSNP: rs374947065
NCBI 1000 Genomes Browser:
rs374947065
Molecular consequence:
  • NM_000088.4:c.790A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001988947GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Mar 31, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV001988947.2

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

Description

Has been reported in trans with a COL1A1 A1083T variant in an individual with primary congenital glaucoma (Mauri et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 32742340, 27484908)

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

Last Updated: Sep 29, 2024