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NM_001199563.2(BVES):c.515G>A (p.Arg172His) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 10, 2023
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:
RCV003164852.2

Allele description [Variation Report for NM_001199563.2(BVES):c.515G>A (p.Arg172His)]

NM_001199563.2(BVES):c.515G>A (p.Arg172His)

Gene:
BVES:blood vessel epicardial substance [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
Preferred name:
NM_001199563.2(BVES):c.515G>A (p.Arg172His)
HGVS:
  • NC_000006.12:g.105125415C>T
  • NG_046732.1:g.16760G>A
  • NM_001199563.2:c.515G>AMANE SELECT
  • NM_007073.4:c.515G>A
  • NM_147147.4:c.515G>A
  • NP_001186492.1:p.Arg172His
  • NP_009004.2:p.Arg172His
  • NP_671488.1:p.Arg172His
  • NC_000006.11:g.105573290C>T
  • NM_001199563.1:c.515G>A
Protein change:
R172H
Molecular consequence:
  • NM_001199563.2:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007073.4:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147147.4:c.515G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003877857Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 10, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003877857.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.515G>A (p.R172H) alteration is located in exon 4 (coding exon 3) of the BVES gene. This alteration results from a G to A substitution at nucleotide position 515, causing the arginine (R) at amino acid position 172 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024