NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 6, 2022
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:: RCV001758327.3

Allele description [Variation Report for NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr)]

NM_000088.4(COL1A1):c.4351G>T (p.Asp1451Tyr)

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.4351G>T (p.Asp1451Tyr)

HGVS:

NC_000017.11:g.50185546C>A
NG_007400.1:g.21094G>T
NM_000088.4:c.4351G>TMANE SELECT
NP_000079.2:p.Asp1451Tyr
LRG_1t1:c.4351G>T
LRG_1:g.21094G>T
NC_000017.10:g.48262907C>A
NM_000088.3:c.4351G>T

Protein change:

D1451Y

Links:

dbSNP: rs1339511647

NCBI 1000 Genomes Browser:

rs1339511647

Molecular consequence:

NM_000088.4:c.4351G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001986437	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 6, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001986437

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 6, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001986437.3

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

Description

Identified in a patient with long bone fractures who also harbored p.(R50*) in the SGMS2 gene, the p.(D1451Y) variant in the COL1A1 gene was inherited from an unaffected father (Robinson et al., 2020); Reported in a poster presented at the American College of Medical Genetics Annual Meeting in a patient with OI who inherited the variant from an unaffected parent (Anderson and Burke; 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD); Not located in the triple helical region, where the majority of pathogenic missense variants occur (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 32028018)

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

Last Updated: Dec 24, 2023

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