U.S. flag

An official website of the United States government

NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser) AND Meniere disease

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 21, 2021
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:
RCV001797192.1

Allele description [Variation Report for NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)]

NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)

Gene:
SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001649.4(SHROOM2):c.631G>A (p.Gly211Ser)
HGVS:
  • NC_000023.11:g.9894539G>A
  • NG_012493.2:g.113084G>A
  • NM_001649.4:c.631G>AMANE SELECT
  • NP_001640.1:p.Gly211Ser
  • NC_000023.10:g.9862579G>A
Protein change:
G211S
Links:
dbSNP: rs138558321
NCBI 1000 Genomes Browser:
rs138558321
Molecular consequence:
  • NM_001649.4:c.631G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Meniere disease
Synonyms:
Ménière's disease
Identifiers:
MONDO: MONDO:0007972; MedGen: C0025281; OMIM: 156000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001738475Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 21, 2021) 		inheritedcase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot provided1not providednot providednot providedcase-control

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 Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO), SCV001738475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)

Description

Digenic inheritance along with NM_000260.4:c.3G>A(MYO7A)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot provided1not provided

Last Updated: Dec 24, 2023