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NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 27, 2020)
Accession:
VCV000982367.1
Variation ID:
982367
Description:
single nucleotide variant
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NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)

Allele ID
970482
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq25
Genomic location
X: 123636155 (GRCh38) GRCh38 UCSC
X: 122770006 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.122770006C>A
NC_000023.11:g.123636155C>A
NM_001081550.2:c.1942G>T MANE Select NP_001075019.1:p.Ala648Ser missense
NG_021468.1:g.101899G>T
Protein change
A648S
Other names
-
Canonical SPDI
NC_000023.11:123636154:C:A
Functional consequence
protein loss of function [Variation Ontology VariO:0043]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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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 - RCV001375047.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
THOC2 - - GRCh38
GRCh37
77 252

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: case-control
Mental retardation, X-linked 12
(X-linked recessive inheritance)
Allele origin: germline
Institute of Bioinformatics
Accession: SCV001439262.1
Submitted: (Oct 27, 2020)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
protein loss of function
Institute of Bioinformatics
Accession: SCV001439262.1
Submitted: (Oct 27, 2020)
Evidence details

Citations for this variant

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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 Aug 21, 2021