NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 2016
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:: RCV000485959.1

Allele description [Variation Report for NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu)]

NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu)

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.1210T>C (p.Phe404Leu)

HGVS:

NC_000009.12:g.134731541T>C
NG_008030.1:g.94736T>C
NM_000093.5:c.1210T>CMANE SELECT
NM_001278074.1:c.1210T>C
NP_000084.3:p.Phe404Leu
NP_001265003.1:p.Phe404Leu
LRG_737t2:c.1210T>C
LRG_737:g.94736T>C
LRG_737p2:p.Phe404Leu
NC_000009.11:g.137623387T>C
NM_000093.3:c.1210T>C

Protein change:

F404L

Links:

dbSNP: rs1052185173

NCBI 1000 Genomes Browser:

rs1052185173

Molecular consequence:

NM_000093.5:c.1210T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001278074.1:c.1210T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000569525	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 28, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000569525

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 28, 2016)

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, SCV000569525.4

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

Description

The F404L variant in the COL5A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The F404L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F404L variant is a conservative amino acid substitution, which occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret F404L as a variant of uncertain significance.

#	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: Apr 23, 2022

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