NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp) AND Cerebral visual impairment and intellectual disability

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 9, 2015
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:: RCV000210381.1

Allele description [Variation Report for NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp)]

NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp)

Gene:

ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.31

Genomic location:

Preferred name:

NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp)

HGVS:

NC_000003.12:g.113789792A>G
NG_047012.1:g.47774A>G
NM_001690.4:c.940A>GMANE SELECT
NP_001681.2:p.Asn314Asp
NC_000003.11:g.113508639A>G
NM_001690.3:c.940A>G

Protein change:

N314D

Links:

dbSNP: rs869312870

NCBI 1000 Genomes Browser:

rs869312870

Molecular consequence:

NM_001690.4:c.940A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cerebral visual impairment and intellectual disability
Identifiers:: MedGen: CN235864

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000258446	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Bosch et al. (EJHG 2015))	Likely pathogenic (Sep 9, 2015)	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000258446

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Bosch et al. (EJHG 2015))

Likely pathogenic
(Sep 9, 2015)

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	1	not provided	not provided	not provided	research

Citations

PubMed

Novel genetic causes for cerebral visual impairment.

Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB.

Eur J Hum Genet. 2016 May;24(5):660-5. doi: 10.1038/ejhg.2015.186. Epub 2015 Sep 9.

PubMed [citation]

PMID:: 26350515
PMCID:: PMC4930090

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000258446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	PubMed (1)

Description

This study shows that diverse genetic causes underlie CVI.

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

Last Updated: Apr 23, 2022

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