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NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
Nov 1, 2017
Accession:
VCV000554706.1
Variation ID:
554706
Description:
single nucleotide variant
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NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)

Allele ID
546327
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q12.2
Genomic location
11: 61397880 (GRCh38) GRCh38 UCSC
11: 61165352 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.61397880C>A
NC_000011.9:g.61165352C>A
NM_001173990.3:c.336C>A NP_001167461.1:p.Tyr112Ter nonsense
... more HGVS
Protein change
Y51*
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
-
Links
dbSNP: rs147267631
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Nov 1, 2017 RCV000670384.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TMEM216 - - GRCh38
GRCh37
81 88

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Nov 01, 2017)
criteria provided, single submitter
Method: clinical testing
Meckel syndrome type 2
Joubert syndrome 2
Allele origin: unknown
Counsyl
Accession: SCV000795229.1
Submitted: (Jul 10, 2018)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019