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NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp) AND not specified

Germline classification:
Benign (1 submission)
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:
RCV001727784.1

Allele description [Variation Report for NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp)]

NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp)

Genes:
LOC130061786:ATAC-STARR-seq lymphoblastoid silent region 9039 [Gene]
TMC6:transmembrane channel like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp)
HGVS:
  • NC_000017.11:g.78124912G>A
  • NG_007879.1:g.12496C>T
  • NM_001127198.5:c.610C>TMANE SELECT
  • NM_001321185.1:c.610C>T
  • NM_001374593.1:c.610C>T
  • NM_001374594.1:c.610C>T
  • NM_001374596.1:c.610C>T
  • NM_001375353.1:c.610C>T
  • NM_001375354.1:c.610C>T
  • NM_007267.7:c.610C>T
  • NP_001120670.1:p.Arg204Trp
  • NP_001308114.1:p.Arg204Trp
  • NP_001361522.1:p.Arg204Trp
  • NP_001361523.1:p.Arg204Trp
  • NP_001361525.1:p.Arg204Trp
  • NP_001362282.1:p.Arg204Trp
  • NP_001362283.1:p.Arg204Trp
  • NP_009198.4:p.Arg204Trp
  • LRG_118:g.12496C>T
  • NC_000017.10:g.76120993G>A
  • NR_168288.1:n.828C>T
  • NR_168289.1:n.828C>T
  • NR_168291.1:n.781C>T
Protein change:
R204W
Links:
dbSNP: rs139654750
NCBI 1000 Genomes Browser:
rs139654750
Molecular consequence:
  • NM_001127198.5:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321185.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374593.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374594.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374596.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375353.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001375354.1:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007267.7:c.610C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_168288.1:n.828C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_168289.1:n.828C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_168291.1:n.781C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001973351Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001973351.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024