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NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu) AND Autosomal recessive nonsyndromic hearing loss 7

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 4, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000454230.1

Allele description [Variation Report for NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)]

NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)

Gene:
TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.13
Genomic location:
Preferred name:
NM_138691.3(TMC1):c.1532C>T (p.Pro511Leu)
HGVS:
  • NC_000009.12:g.72792318C>T
  • NG_008213.1:g.275518C>T
  • NM_138691.3:c.1532C>TMANE SELECT
  • NP_619636.2:p.Pro511Leu
  • NP_619636.2:p.Pro511Leu
  • NC_000009.11:g.75407234C>T
  • NM_138691.2:c.1532C>T
Protein change:
P511L
Links:
dbSNP: rs727503483
NCBI 1000 Genomes Browser:
rs727503483
Molecular consequence:
  • NM_138691.3:c.1532C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 7
Synonyms:
DEAFNESS, AUTOSOMAL RECESSIVE 11; Deafness, autosomal recessive 7
Identifiers:
MONDO: MONDO:0010967; MedGen: C1832978; Orphanet: 90636; OMIM: 600974

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000538123Hereditary Research Laboratory, Bethlehem University
no assertion criteria provided
Pathogenic
(Jun 4, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Hereditary Research Laboratory, Bethlehem University, SCV000538123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

FA3 moderate HL at 6y; FA4 profound at 18m

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022