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NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 10, 2017
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:
RCV000442366.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter)]

NM_000088.4(COL1A1):c.501T>A (p.Tyr167Ter)

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.501T>A (p.Tyr167Ter)
HGVS:
  • NC_000017.11:g.50198475A>T
  • NG_007400.1:g.8165T>A
  • NM_000088.4:c.501T>AMANE SELECT
  • NP_000079.2:p.Tyr167Ter
  • NP_000079.2:p.Tyr167Ter
  • LRG_1t1:c.501T>A
  • LRG_1:g.8165T>A
  • LRG_1p1:p.Tyr167Ter
  • NC_000017.10:g.48275836A>T
  • NM_000088.3:c.501T>A
Protein change:
Y167*
Links:
dbSNP: rs946705319
NCBI 1000 Genomes Browser:
rs946705319
Molecular consequence:
  • NM_000088.4:c.501T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000535375GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 10, 2017) 		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, SCV000535375.3

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

Description

The Y167X variant in the COL1A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y167X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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

Last Updated: Apr 23, 2022