NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln) AND Zimmermann-Laband syndrome 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 1, 2017
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:: RCV000496102.2

Allele description [Variation Report for NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)]

NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)

Gene:

ATP6V1B2:ATPase H+ transporting V1 subunit B2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p21.3

Genomic location:

Preferred name:

NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln)

HGVS:

NC_000008.11:g.20216454G>C
NG_047013.1:g.24262G>C
NM_001693.4:c.1120G>CMANE SELECT
NP_001684.2:p.Glu374Gln
NC_000008.10:g.20073965G>C
NM_001693.3:c.1120G>C

Protein change:

E374Q

Links:

dbSNP: rs1135401772

NCBI 1000 Genomes Browser:

rs1135401772

Molecular consequence:

NM_001693.4:c.1120G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Zimmermann-Laband syndrome 2 (ZLS2)
Identifiers:: MONDO: MONDO:0014646; MedGen: C4225321; Orphanet: 3473; OMIM: 616455

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000586714	Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 1, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000586714

Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 1, 2017)

de novo

clinical testing

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	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000586714.1

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

Description

De novo missense variant in a patient with severe ID, hypotonia, microcephaly, three seizures.

#	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	not provided	not provided

Last Updated: Jun 23, 2024

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