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NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jun 11, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000932224.2
Variation ID:
932224
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)

Allele ID
920506
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31520891 (GRCh38) GRCh38 UCSC
18: 29100854 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31520891T>A
NC_000018.9:g.29100854T>A
NM_001943.5:c.305T>A MANE Select NP_001934.2:p.Phe102Tyr missense
... more HGVS
Protein change
F102Y
Other names
-
Canonical SPDI
NC_000018.10:31520890:T:A
Functional consequence
-
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
Uncertain significance 1 criteria provided, single submitter May 18, 2020 RCV001199950.1
Uncertain significance 1 criteria provided, single submitter Dec 8, 2020 RCV001525623.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 1094

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 18, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001370750.1
Submitted: (Jul 01, 2020)
Evidence details
Comment:
Variant summary: DSG2 c.305T>A (p.Phe102Tyr) results in a conservative amino acid change located in the Cadherin-like domain (IPR002126) of the encoded protein sequence. Four of … (more)
Uncertain significance
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001735794.1
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces phenylalanine with tyrosine at codon 102 of the DSG2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)

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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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 Jun 19, 2021