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NM_003126.3(SPTA1):c.781T>C (p.Ser261Pro)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Oct 1, 1989
Accession:
VCV000012848.1
Variation ID:
12848
Description:
single nucleotide variant
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NM_003126.3(SPTA1):c.781T>C (p.Ser261Pro)

Allele ID
27887
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q23.1
Genomic location
1: 158678432 (GRCh38) GRCh38 UCSC
1: 158648222 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1131:g.13285T>C
NC_000001.10:g.158648222A>G
NC_000001.11:g.158678432A>G
... more HGVS
Protein change
S261P
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs121918636
UniProtKB: P02549#VAR_001341
OMIM: 182860.0004
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Oct 1, 1989 RCV000013701.24
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SPTA1 - - GRCh38
GRCh37
248 255

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 01, 1989)
no assertion criteria provided
Method: literature only
ELLIPTOCYTOSIS 2
Allele origin: germline
OMIM
Accession: SCV000033948.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

Citations for this variant

Title Author Journal Year Link
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. Sahr KE The Journal of clinical investigation 1989 PMID: 2794061
Mutant forms of spectrin alpha-subunits in hereditary elliptocytosis. Marchesi SL The Journal of clinical investigation 1987 PMID: 3597773

Record last updated Mar 29, 2019