NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) AND not specified - ClinVar (2024)

Somatic classification
of clinical impact:

None

Review status:

(0/4)

no assertion criteria provided

Somatic classification
of oncogenicity:

None

Review status:

(0/4)

no assertion criteria provided

NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)

Gene:

COL6A3:collagen type VI alpha 3 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

• Chr2: 237371833 (on Assembly GRCh38)
• Chr2: 238280476 (on Assembly GRCh37)

Preferred name:

NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)

HGVS:

• NC_000002.12:g.237371833C>T
• NG_008676.1:g.47375G>A
• NM_004369.4:c.4184G>AMANE SELECT
• NM_057164.5:c.2963G>A
• NM_057165.5:c.3566G>A
• NM_057166.5:c.2363G>A
• NM_057167.4:c.3566G>A
• NP_004360.2:p.Arg1395Gln
• NP_004360.2:p.Arg1395Gln
• NP_476505.3:p.Arg988Gln
• NP_476506.3:p.Arg1189Gln
• NP_476507.3:p.Arg788Gln
• NP_476508.2:p.Arg1189Gln
• LRG_473t1:c.4184G>A
• LRG_473:g.47375G>A
• LRG_473p1:p.Arg1395Gln
• NC_000002.11:g.238280476C>T
• NM_004369.3:c.4184G>A
• P12111:p.Arg1395Gln

Protein change:

R1189Q

Links:

UniProtKB: P12111#VAR_058251; dbSNP: rs80272723

NCBI 1000 Genomes Browser:

rs80272723

Molecular consequence:

• NM_004369.4:c.4184G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057164.5:c.2963G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057165.5:c.3566G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057166.5:c.2363G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_057167.4:c.3566G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.