COL6A3 D2831H - GET-Evidence


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COL6A3 D2831H

(COL6A3 Asp2831His)

You are viewing an old version of this page that was saved on September 20, 2011 at 2:00pm by Madeleine Ball.

Short summary

Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene.

Variant evidence
Computational 1

No polyphen information, BLOSUM100 score indicates Asp to His is not very disruptive.

Functional -
Case/Control 3

Allele frequency supports no severe pathogenic effect

Familial 1

Pan et al. report the variant was found in both affected and unaffected family members.

See Pan TC et al. 1998 (9536084).

Clinical importance
Severity -
Treatability -
Penetrance -


Low clinical importance, Likely benign

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr2:238247734: 6.8% (730/10758) in EVS
  • G @ chr2:237912472: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 6.8% (730/10758)


Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12. PubMed PMID: 9536084.


Edited in this revision:

Baker NL, Mörgelin M, Peat R, Goemans N, North KN, Bateman JF, Lamandé SR. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet. 2005 Jan 15;14(2):279-93. Epub 2004 Nov 24. PubMed PMID: 15563506.

This variant is reported to be heterozygous in patient UCMD3, refencing Pan et al. Other variants are reported as well, it is unclear which variant the authors consider to be causal.

This patient’s cell line actually had collagen VI appear normal in most tests performed. However, the authors report unusual large aggregates and hypothesize that there is some structural abnormality in collagen VI in this patient even though no other biosynthetic or assembly abnormalities were found.


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:238247734


huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr2:238247734


GS06994 - var-GS06994-1100-36-ASM
het G @ chr2:237912473


GS10851 - var-GS10851-1100-36-ASM
het G @ chr2:237912473


GS12004 - var-GS12004-1100-36-ASM
het G @ chr2:237912473


Other external references

  • rs36104025

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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