NM_000088.4(COL1A1):c.400dup (p.Ile134fs) AND none provided

Clinical significance:Likely pathogenic (Last evaluated: Jul 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001285170.1

Allele description [Variation Report for NM_000088.4(COL1A1):c.400dup (p.Ile134fs)]

NM_000088.4(COL1A1):c.400dup (p.Ile134fs)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.400dup (p.Ile134fs)
HGVS:
  • NC_000017.11:g.50199297dup
  • NG_007400.1:g.7343dup
  • NM_000088.4:c.400dupMANE SELECT
  • NP_000079.2:p.Ile134fs
  • LRG_1:g.7343dup
  • NC_000017.10:g.48276658dup
  • NC_000017.10:g.48276658dupT
Protein change:
I134fs
Links:
Molecular consequence:
  • NM_000088.4:c.400dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
none provided
Identifiers:
MedGen: CN235283

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001471562ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Jul 28, 2019)
germlineclinical testing

Citation Link

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, SCV001471562.1

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

Description

The COL1A1 c.400dupA; p.Ile134fs variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Therefore, based on available information, this variant is considered to be likely pathogenic.

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

Last Updated: Jan 30, 2021

Support Center