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NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys) AND Osteogenesis imperfecta

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000029551.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)]

NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)

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.1021G>T (p.Gly341Cys)
HGVS:
  • NC_000017.11:g.50195958C>A
  • NG_007400.1:g.10682G>T
  • NM_000088.4:c.1021G>TMANE SELECT
  • NP_000079.2:p.Gly341Cys
  • NP_000079.2:p.Gly341Cys
  • LRG_1t1:c.1021G>T
  • LRG_1:g.10682G>T
  • LRG_1p1:p.Gly341Cys
  • NC_000017.10:g.48273319C>A
  • NM_000088.3:c.1021G>T
Protein change:
G341C
Links:
dbSNP: rs193922137
NCBI 1000 Genomes Browser:
rs193922137
Molecular consequence:
  • NM_000088.4:c.1021G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Osteogenesis imperfecta (OI)
Identifiers:
MONDO: MONDO:0019019; MeSH: D010013; MedGen: C0029434; OMIM: PS166200

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000052203Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		likely pathogenic
(Aug 18, 2011) 		germlinecuration, clinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052203.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteCOL1A1:c.4249-12G>A, COL1A1:c.299-20C>G, COL1A1:c.1803C>T, COL1A1:c.3223A>G, COL1A1:c.1930-14T>C1

Last Updated: Jun 1, 2022