NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 5, 2024
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:: RCV002508271.4

Allele description [Variation Report for NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)]

NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)

Gene:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu)

HGVS:

NC_000009.12:g.134761956C>T
NG_008030.1:g.125151C>T
NM_000093.5:c.1967C>TMANE SELECT
NM_001278074.1:c.1967C>T
NP_000084.3:p.Pro656Leu
NP_001265003.1:p.Pro656Leu
LRG_737t1:c.1967C>T
LRG_737t2:c.1967C>T
LRG_737:g.125151C>T
LRG_737p2:p.Pro656Leu
NC_000009.11:g.137653802C>T
NM_000093.3:c.1967C>T
NM_000093.4:c.1967C>T

Protein change:

P656L

Links:

dbSNP: rs748345448

NCBI 1000 Genomes Browser:

rs748345448

Molecular consequence:

NM_000093.5:c.1967C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.1967C>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
SCV002817894	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 5, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002817894

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 5, 2024)

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, SCV002817894.2

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (PMID: 22696272, HGMD); This variant is associated with the following publications: (PMID: 22696272)

#	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: Oct 8, 2024

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