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NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 9, 2022
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:
RCV002307816.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg)]

NM_000088.4(COL1A1):c.1921G>A (p.Gly641Arg)

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.1921G>A (p.Gly641Arg)
HGVS:
  • NC_000017.11:g.50192648C>T
  • NG_007400.1:g.13992G>A
  • NM_000088.4:c.1921G>AMANE SELECT
  • NP_000079.2:p.Gly641Arg
  • LRG_1t1:c.1921G>A
  • LRG_1:g.13992G>A
  • NC_000017.10:g.48270009C>T
  • NM_000088.3:c.1921G>A
Protein change:
G641R
Links:
dbSNP: rs2144563717
NCBI 1000 Genomes Browser:
rs2144563717
Molecular consequence:
  • NM_000088.4:c.1921G>A - 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
SCV002601408GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(May 9, 2022) 		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, SCV002601408.2

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

Description

Occurs in the triple helical domain and replaces a glycine in a canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Jovanovic et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34007986, 33777089)

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

Last Updated: Sep 29, 2024