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NM_000441.2(SLC26A4):c.1842T>C (p.Ala614=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 23, 2019
Accession:
VCV001102530.1
Variation ID:
1102530
Description:
single nucleotide variant
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NM_000441.2(SLC26A4):c.1842T>C (p.Ala614=)

Allele ID
1095834
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.3
Genomic location
7: 107701865 (GRCh38) GRCh38 UCSC
7: 107342310 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.107342310T>C
NC_000007.14:g.107701865T>C
NM_000441.2:c.1842T>C MANE Select NP_000432.1:p.Ala614= synonymous
NG_008489.1:g.46231T>C
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:107701864:T:C
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
Likely benign 1 criteria provided, single submitter Dec 23, 2019 RCV001425874.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC26A4 - - GRCh38
GRCh37
749 825

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 23, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001628512.1
Submitted: (Jan 07, 2021)
Evidence details

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 May 26, 2021