NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Nov 3, 2016
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000417628.13

Allele description [Variation Report for NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln)]

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:

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]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000511322	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely Benign (Nov 3, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005261817	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000511322

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely Benign
(Nov 3, 2016)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005261817

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

PubMed (1)
[See all records that cite this PMID]

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	not provided
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000511322.1

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

Description

Converted during submission to Likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.003222	not provided	not provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005261817.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (1)

#	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 30, 2024

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