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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:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000586714Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 1, 2017) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024