SPTA1 A970D - GET-Evidence

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(SPTA1 Ala970Asp)

You are viewing an old version of this page that was saved on May 10, 2010 at 6:30pm by Madeleine Ball.

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Short summary

This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary pyropoikilocytosis.

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr1:158624528: 3.7% (370/9916) in EVS
  • T @ chr1:156891151: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (370/9916)


Maillet P, Alloisio N, Morlé L, Delaunay J. Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis. Hum Mutat. 1996;8(2):97-107. PubMed PMID: 8844207.

They mention the allele alpha-LEPRA as also implicated in hereditary spherocytosis, a C>T substitution at position -99 of intron 30. They say this is linked in cis to the alpha-IIs (A970D) substitution.

Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood. 2005 Dec 15;106(13):4367-9. Epub 2005 Sep 8. PubMed PMID: 16150946; PubMed Central PMCID: PMC1895230.

This variant is reported as to being seen frequently in individuals with recessive Hereditary pyropoikilocytosis.


hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:158624528




Other external references

  • rs35948326

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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