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NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 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:
RCV002413314.8

Allele description [Variation Report for NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)]

NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)

Gene:
COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.33
Genomic location:
Preferred name:
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
HGVS:
  • NC_000017.11:g.50194019C>T
  • NG_007400.1:g.12621G>A
  • NM_000088.4:c.1691G>AMANE SELECT
  • NP_000079.2:p.Arg564His
  • NP_000079.2:p.Arg564His
  • LRG_1t1:c.1691G>A
  • LRG_1:g.12621G>A
  • LRG_1p1:p.Arg564His
  • NC_000017.10:g.48271380C>T
  • NM_000088.3:c.1691G>A
  • p.Arg564His
Protein change:
R564H
Links:
dbSNP: rs1800211
NCBI 1000 Genomes Browser:
rs1800211
Molecular consequence:
  • NM_000088.4:c.1691G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002715385Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Jul 16, 2021) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Clinical application of whole-exome sequencing across clinical indications.

Retterer K, Juusola J, Cho MT, Vitazka P, Millan F, Gibellini F, Vertino-Bell A, Smaoui N, Neidich J, Monaghan KG, McKnight D, Bai R, Suchy S, Friedman B, Tahiliani J, Pineda-Alvarez D, Richard G, Brandt T, Haverfield E, Chung WK, Bale S.

Genet Med. 2016 Jul;18(7):696-704. doi: 10.1038/gim.2015.148. Epub 2015 Dec 3.

PubMed [citation]
PMID:
26633542

Details of each submission

From Ambry Genetics, SCV002715385.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.R564H variant (also known as c.1691G>A), located in coding exon 25 of the COL1A1 gene, results from a G to A substitution at nucleotide position 1691. The arginine at codon 564 is replaced by histidine, an amino acid with highly similar properties. This alteration was identified in an individual with features of connective tissue disease (Retterer K et al. Genet Med, 2016 07;18:696-704). This amino acid position is highly 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024