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NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 27, 2019
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:
RCV001001278.8

Allele description [Variation Report for NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)]

NM_000088.4(COL1A1):c.1715G>C (p.Gly572Ala)

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.1715G>C (p.Gly572Ala)
HGVS:
  • NC_000017.11:g.50193995C>G
  • NG_007400.1:g.12645G>C
  • NM_000088.4:c.1715G>CMANE SELECT
  • NP_000079.2:p.Gly572Ala
  • LRG_1:g.12645G>C
  • NC_000017.10:g.48271356C>G
Protein change:
G572A
Links:
dbSNP: rs1598295066
NCBI 1000 Genomes Browser:
rs1598295066
Molecular consequence:
  • NM_000088.4:c.1715G>C - 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
SCV001158454ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(May 27, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158454.1

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

Description

The COL1A1 c.1715G>C; p.Gly572Ala variant, to our knowledge, has not been described in the medical literature or in gene-specific databases. It is also absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the repeating Gly-X-Y sequence motif of the collagen triple helix and is predicted to impair collagen function (Ben Amor 2011). Additionally, several other surrounding glycine substitutions in this exon have been reported in individuals affected with osteogenesis imperfect types II and IV and are considered pathogenic (Marini 2007). Based on available information, the p.Gly572Ala variant is considered likely pathogenic. REFERENCES Ben Amor I et al. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011; 2011:540178. Marini J et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007 Mar;28(3):209-21.

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

Last Updated: Mar 4, 2023