NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Dec 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000413672.1

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)]

NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)

Gene:
ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.31
Genomic location:
Preferred name:
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)
HGVS:
  • NC_000012.12:g.123754490A>G
  • NG_012743.1:g.47173A>G
  • NM_012463.4:c.2246A>GMANE SELECT
  • NP_036595.2:p.Asn749Ser
  • NC_000012.11:g.124239037A>G
  • NM_012463.3:c.2246A>G
Protein change:
N749S
Links:
dbSNP: rs941238473
NCBI 1000 Genomes Browser:
rs941238473
Molecular consequence:
  • NM_012463.4:c.2246A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000492139GeneDxcriteria provided, single submitter
Uncertain significance
(Dec 6, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000492139.1

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

Description

A variant of uncertain significance has been identified in the ATP6V0A2 gene. The N749S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N749S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, it is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

Last Updated: Feb 27, 2021

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