NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(2);Uncertain significance(1) (Last evaluated: Sep 23, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000724863.7

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)]

NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)

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.2229T>C (p.Cys743=)
HGVS:
  • NC_000012.12:g.123754473T>C
  • NG_012743.1:g.47156T>C
  • NM_012463.4:c.2229T>CMANE SELECT
  • NP_036595.2:p.Cys743=
  • NC_000012.11:g.124239020T>C
  • NM_012463.3:c.2229T>C
Links:
dbSNP: rs150508296
NCBI 1000 Genomes Browser:
rs150508296
Molecular consequence:
  • NM_012463.4:c.2229T>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226801EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(May 22, 2015)
germlineclinical testing

Citation Link,

SCV000527506GeneDxcriteria provided, single submitter
Likely benign
(Sep 23, 2020)
germlineclinical testing

Citation Link,

SCV001143084Athena Diagnostics Inccriteria provided, single submitter
Benign
(Mar 28, 2019)
germlineclinical testing

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

SCV001502155CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Aug 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226801.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV000527506.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001143084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001502155.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 16, 2021

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