NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Nov 30, 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:: RCV004766430.1

Allele description [Variation Report for NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=)]

NM_012463.4(ATP6V0A2):c.1116C>G (p.Thr372=)

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.1116C>G (p.Thr372=)

HGVS:

NC_000012.12:g.123743862C>G
NG_012743.1:g.36545C>G
NM_012463.4:c.1116C>GMANE SELECT
NP_036595.2:p.Thr372=
NP_036595.2:p.Thr372=
NC_000012.11:g.124228409C>G
NM_012463.2:c.1116C>G
NM_012463.3:c.1116C>G

Molecular consequence:

NM_012463.4:c.1116C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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SAMN05446217 (17)
SRA
Arabidopsis thaliana Ran BP2/NZF zinc finger-like superfamily protein (AT1G70650...
Arabidopsis thaliana Ran BP2/NZF zinc finger-like superfamily protein (AT1G70650), mRNA
gi|1063692050|ref|NM_105733.3|

Nucleotide
Gluconobacter cerinus strain R-50417 RNA polymerase subunit B (rpoB) gene, parti...
Gluconobacter cerinus strain R-50417 RNA polymerase subunit B (rpoB) gene, partial cds
gi|604233734|gb|KF910103.1|

Nucleotide
Acetobacter indonesiensis strain R-50645 RNA polymerase subunit B (rpoB) gene, p...
Acetobacter indonesiensis strain R-50645 RNA polymerase subunit B (rpoB) gene, partial cds
gi|604233746|gb|KF910109.1|

Nucleotide
Bioengineering
Bioengineering
The application of engineering principles and methods to living organisms or biological systems.<br/>Year introduced: 2010

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005379565	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Nov 30, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005379565

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Nov 30, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005379565.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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Relating variation to medicine