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NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Feb 26, 2018
Accession:
VCV000570957.1
Variation ID:
570957
Description:
single nucleotide variant
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NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn)

Allele ID
573357
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 30626483 (GRCh38) GRCh38 UCSC
22: 31022470 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.31022470G>A
NC_000022.11:g.30626483G>A
NM_000355.4:c.1246G>A NP_000346.2:p.Asp416Asn missense
... more HGVS
Protein change
D416N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00004
Links
dbSNP: rs773473997
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 26, 2018 RCV000691960.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TCN2 - - GRCh38
GRCh37
129 154

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Feb 26, 2018)
criteria provided, single submitter
Method: clinical testing
Transcobalamin II deficiency
Allele origin: germline
Invitae
Accession: SCV000819761.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 416 of the TCN2 protein (p.Asp416Asn). The aspartic acid residue is moderately conserved and there ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 04, 2020