NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 17, 2023
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:: RCV004034446.1

Allele description [Variation Report for NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)]

NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)

Gene:

COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)

HGVS:

NC_000021.9:g.46125869C>T
NG_008675.1:g.32751C>T
NM_001849.3:c.2054C>T
NM_001849.4:c.2054C>TMANE SELECT
NM_058174.3:c.2054C>T
NM_058175.3:c.2054C>T
NP_001840.3:p.Ser685Leu
NP_478054.2:p.Ser685Leu
NP_478055.2:p.Ser685Leu
LRG_476t1:c.2054C>T
LRG_476:g.32751C>T
NC_000021.8:g.47545783C>T

Protein change:

S685L

Links:

dbSNP: rs564873527

NCBI 1000 Genomes Browser:

rs564873527

Molecular consequence:

NM_001849.4:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_058174.3:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_058175.3:c.2054C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004929510	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004929510

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 17, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004929510.1

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

Description

The c.2054C>T (p.S685L) alteration is located in exon 26 (coding exon 25) of the COL6A2 gene. This alteration results from a C to T substitution at nucleotide position 2054, causing the serine (S) at amino acid position 685 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine