NM_000088.4(COL1A1):c.432dup (p.Gly145fs) AND COL1A1-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 19, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004551604.2

Allele description [Variation Report for NM_000088.4(COL1A1):c.432dup (p.Gly145fs)]

NM_000088.4(COL1A1):c.432dup (p.Gly145fs)

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.432dup (p.Gly145fs)

HGVS:

NC_000017.11:g.50199270dup
NG_007400.1:g.7375dup
NM_000088.4:c.432dupMANE SELECT
NP_000079.2:p.Gly145fs
LRG_1t1:c.432dup
LRG_1:g.7375dup
LRG_1p1:p.Gly145fs
NC_000017.10:g.48276625_48276626insG
NC_000017.10:g.48276631dup
NM_000088.3:c.432dupC

Protein change:

G145fs

Links:

dbSNP: rs72667016

NCBI 1000 Genomes Browser:

rs72667016

Molecular consequence:

NM_000088.4:c.432dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: COL1A1-related disorder
Synonyms:: COL1A1-related disease; COL1A1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004723563	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Dec 19, 2023)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004723563

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Dec 19, 2023)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004723563.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The COL1A1 c.432dupC variant is predicted to result in a frameshift and premature protein termination (p.Gly145Argfs*24). This variant was reported in an individual with osteogenesis imperfecta (Gentile et al 2012. PubMed ID: 22753364). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in COL1A1 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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