NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 17, 2021
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:: RCV001585756.11

Allele description [Variation Report for NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)]

NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)

Genes:

COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC101448202:uncharacterized LOC101448202 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

NM_000093.5(COL5A1):c.4676A>C (p.His1559Pro)

HGVS:

NC_000009.12:g.134823447A>C
NG_008030.1:g.186642A>C
NM_000093.5:c.4676A>CMANE SELECT
NM_001278074.1:c.4676A>C
NP_000084.3:p.His1559Pro
NP_000084.3:p.His1559Pro
NP_001265003.1:p.His1559Pro
LRG_737t1:c.4676A>C
LRG_737t2:c.4676A>C
LRG_737:g.186642A>C
LRG_737p1:p.His1559Pro
LRG_737p2:p.His1559Pro
NC_000009.11:g.137715293A>C
NM_000093.3:c.4676A>C
NM_000093.4:c.4676A>C

Protein change:

H1559P

Links:

dbSNP: rs768691969

NCBI 1000 Genomes Browser:

rs768691969

Molecular consequence:

NM_000093.5:c.4676A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.4676A>C - 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
SCV001812468	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001812468

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 17, 2021)

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, SCV001812468.1

#	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, which includes protein predictors and evolutionary conservation, supports that this variant does not alter 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 (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 662135; Landrum et al., 2016)

#	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: Nov 24, 2024

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