NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 10, 2022
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:: RCV002805591.3

Allele description [Variation Report for NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)]

NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)

Gene:

COL12A1:collagen type XII alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

Preferred name:

NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)

HGVS:

NC_000006.12:g.75087609G>T
NG_042181.1:g.123299C>A
NM_004370.6:c.9149C>AMANE SELECT
NM_080645.3:c.5657C>A
NP_004361.3:p.Ala3050Asp
NP_542376.2:p.Ala1886Asp
NC_000006.11:g.75797325G>T

Protein change:

A1886D

Molecular consequence:

NM_004370.6:c.9149C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_080645.3:c.5657C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ullrich congenital muscular dystrophy 2 (UCMD2)
Identifiers:: MONDO: MONDO:0014654; MedGen: C4225314; Orphanet: 75840; OMIM: 616470

Name:: Bethlem myopathy 2 (BTHLM2)
Identifiers:: MONDO: MONDO:0034022; MedGen: C4225313; Orphanet: 610; OMIM: 616471

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003027864	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 10, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003027864

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 10, 2022)

germline

clinical testing

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003027864.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with COL12A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 3050 of the COL12A1 protein (p.Ala3050Asp).

#	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

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