NM_020632.3(ATP6V0A4):c.1692-99del AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 20, 2019
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:: RCV001562798.2

Allele description [Variation Report for NM_020632.3(ATP6V0A4):c.1692-99del]

NM_020632.3(ATP6V0A4):c.1692-99del

Gene:

ATP6V0A4:ATPase H+ transporting V0 subunit a4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7q34

Genomic location:

Preferred name:

NM_020632.3(ATP6V0A4):c.1692-99del

HGVS:

NC_000007.14:g.138733203del
NG_008145.1:g.70005del
NM_020632.3:c.1692-99delMANE SELECT
NM_130840.3:c.1692-99del
NM_130841.3:c.1692-99del
LRG_1175t1:c.1692-99del
LRG_1175:g.70005del
NC_000007.13:g.138417948del

Links:

dbSNP: rs777775084

NCBI 1000 Genomes Browser:

rs777775084

Molecular consequence:

NM_020632.3:c.1692-99del - intron variant - [Sequence Ontology: SO:0001627]
NM_130840.3:c.1692-99del - intron variant - [Sequence Ontology: SO:0001627]
NM_130841.3:c.1692-99del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001785624	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Aug 20, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001785624

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Aug 20, 2019)

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, SCV001785624.1

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

#	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: Dec 24, 2023

ClinVar

Relating variation to medicine