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NM_014738.6(TMEM94):c.2605dup (p.Met869fs) AND TMEM94-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 16, 2018
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:
RCV000735206.2

Allele description [Variation Report for NM_014738.6(TMEM94):c.2605dup (p.Met869fs)]

NM_014738.6(TMEM94):c.2605dup (p.Met869fs)

Gene:
TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
NM_014738.6(TMEM94):c.2605dup (p.Met869fs)
HGVS:
  • NC_000017.11:g.75494911dup
  • NG_054884.1:g.58753dup
  • NM_001321148.2:c.2635dup
  • NM_001321149.2:c.2617dup
  • NM_001351202.2:c.2557dup
  • NM_001351203.2:c.2632dup
  • NM_014738.6:c.2605dupMANE SELECT
  • NP_001308077.1:p.Met879fs
  • NP_001308078.1:p.Met873fs
  • NP_001338131.1:p.Met853fs
  • NP_001338132.1:p.Met878fs
  • NP_055553.3:p.Met869fs
  • NC_000017.10:g.73490992dup
  • NM_001321148.1:c.2635dup
  • NM_001321148.1:c.2635dupA
  • p.Met879Asnfs*18
Protein change:
M853fs
Links:
OMIM: 618163.0003; dbSNP: rs1163944538
NCBI 1000 Genomes Browser:
rs1163944538
Molecular consequence:
  • NM_001321148.2:c.2635dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321149.2:c.2617dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351202.2:c.2557dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351203.2:c.2632dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014738.6:c.2605dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
TMEM94-related disorder
Synonyms:
TMEM94-related condition
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000863413Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 16, 2018)
maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whitematernalyes11not 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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000863413.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing PubMed (1)

Description

This individual has been reported in PMID: 30526868.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providedbloodnot provided1not provided1not provided

Last Updated: May 19, 2024