NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 1, 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:: RCV002446511.9

Allele description [Variation Report for NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)]

NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)

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.3047C>A (p.Pro1016His)

HGVS:

NC_000007.14:g.94426472C>A
NG_007405.1:g.36912C>A
NM_000089.4:c.3047C>AMANE SELECT
NP_000080.2:p.Pro1016His
NP_000080.2:p.Pro1016His
LRG_2t1:c.3047C>A
LRG_2:g.36912C>A
LRG_2p1:p.Pro1016His
NC_000007.13:g.94055784C>A
NM_000089.3:c.3047C>A

Protein change:

P1016H

Links:

dbSNP: rs377278762

NCBI 1000 Genomes Browser:

rs377278762

Molecular consequence:

NM_000089.4:c.3047C>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
SCV002754001	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Nov 1, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21520333, 25944380 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002754001

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Nov 1, 2021)

germline

clinical testing

PubMed (2)
[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

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]

PMID:: 21520333

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

Lindahl K, Åström E, Rubin CJ, Grigelioniene G, Malmgren B, Ljunggren Ö, Kindmark A.

Eur J Hum Genet. 2015 Aug;23(8):1042-50. doi: 10.1038/ejhg.2015.81. Epub 2015 May 6. Erratum in: Eur J Hum Genet. 2015 Aug;23(8):1112.

PubMed [citation]

PMID:: 25944380
PMCID:: PMC4795106

Details of each submission

From Ambry Genetics, SCV002754001.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.P1016H variant (also known as c.3047C>A), located in coding exon 46 of the COL1A2 gene, results from a C to A substitution at nucleotide position 3047. The proline at codon 1016 is replaced by histidine, an amino acid with similar properties. This alteration has been reported in a subject with osteogenesis imperfecta (OI) (Lindahl K et al. Eur. J. Hum. Genet., 2015 Aug;23:1042-50). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, 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: May 26, 2024

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