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NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 29, 2017)
Accession:
VCV000402171.1
Variation ID:
402171
Description:
single nucleotide variant
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NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn)

Allele ID
389180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q11.23
Genomic location
20: 37999220 (GRCh38) GRCh38 UCSC
20: 36627622 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.36627622C>T
NC_000020.11:g.37999220C>T
NM_001303457.2:c.2761G>A MANE Select NP_001290386.1:p.Asp921Asn missense
NM_014657.3:c.2761G>A NP_055472.1:p.Asp921Asn missense
Protein change
D921N
Other names
-
Canonical SPDI
NC_000020.11:37999219:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16609542
dbSNP: rs375131638
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 - RCV000454248.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTI1 - - GRCh38
GRCh37
8 17

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: research
Abnormality of brain morphology
(Autosomal recessive inheritance)
Allele origin: inherited
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Accession: SCV000537948.1
Submitted: (Mar 29, 2017)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Karaca E Neuron 2015 PMID: 26539891

Text-mined citations for rs375131638...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 27, 2019