NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Nov 5, 2021
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:: RCV002415422.9

Allele description [Variation Report for NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)]

NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

Gene:

COL1A2:collagen type I alpha 2 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

Preferred name:

NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln)

Other names:

R618Q

HGVS:

NC_000007.14:g.94420276G>A
NG_007405.1:g.30716G>A
NM_000089.4:c.2123G>AMANE SELECT
NP_000080.2:p.Arg708Gln
NP_000080.2:p.Arg708Gln
LRG_2t1:c.2123G>A
LRG_2:g.30716G>A
LRG_2p1:p.Arg708Gln
NC_000007.13:g.94049588G>A
NM_000089.3:c.2123G>A
P08123:p.Arg708Gln

Protein change:

R708Q; ARG618GLN

Links:

UniProtKB: P08123#VAR_001876; OMIM: 120160.0020; dbSNP: rs72658163

NCBI 1000 Genomes Browser:

rs72658163

Molecular consequence:

NM_000089.4:c.2123G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002729934	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Nov 5, 2021)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 1978725, 26432670, 28017821, 28518168, 32461654 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002729934

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Nov 5, 2021)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Citations

PubMed

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome.

Phillips CL, Shrago-Howe AW, Pinnell SR, Wenstrup RJ.

J Clin Invest. 1990 Nov;86(5):1723-8.

PubMed [citation]

PMID:: 1978725
PMCID:: PMC296925

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

Taillandier A, Domingues C, De Cazanove C, Porquet-Bordes V, Monnot S, Kiffer-Moreira T, Rothenbuhler A, Guggenbuhl P, Cormier C, Baujat G, Debiais F, Capri Y, Cohen-Solal M, Parent P, Chiesa J, Dieux A, Petit F, Roume J, Isnard M, Cormier-Daire V, Linglart A, Millán JL, et al.

Mol Genet Metab. 2015 Nov;116(3):215-20. doi: 10.1016/j.ymgme.2015.09.010. Epub 2015 Sep 30.

PubMed [citation]

PMID:: 26432670
PMCID:: PMC5257278

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002729934.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Jan 13, 2025

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