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NM_002968.2(SALL1):c.264C>T (p.Ser88=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 21, 2017
Accession:
VCV000528883.1
Variation ID:
528883
Description:
single nucleotide variant
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NM_002968.2(SALL1):c.264C>T (p.Ser88=)

Allele ID
530183
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q12.1
Genomic location
16: 51141958 (GRCh38) GRCh38 UCSC
16: 51175869 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.51141958G>A
NC_000016.9:g.51175869G>A
NM_002968.2:c.264C>T NP_002959.2:p.Ser88= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00132
Trans-Omics for Precision Medicine (TOPMed) 0.00111
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00162
The Genome Aggregation Database (gnomAD), exomes 0.00034
1000 Genomes Project 0.00160
Links
dbSNP: rs143501736
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Dec 21, 2017 RCV000634157.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SALL1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
157 181

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 21, 2017)
criteria provided, single submitter
Method: clinical testing
Townes syndrome
Allele origin: germline
Invitae
Accession: SCV000755456.1
Submitted: (Apr 02, 2018)
Evidence details

Citations for this variant

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 Mar 29, 2019