LOVD - Variant listings for TNFRSF10A

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Patient data (#0000113)
Patient ID
Disease Breast Cancer and Ovarian cancer
Reference Dick et al., 2011
Template DNA
Technique PCR, SEQ
Frequency -
Remarks 557 female carriers of BRCA1 and 283 female carrier
of BRCA2 mutations were sequenced for the presence of two TRAIL-R1 variants. Variant 683A>C appears to be associated with an increased risk of ovarian cancer. The two variants were found in the following frequencies: 622C>G:CC=266/CG=407/GG=167 683A>C:AA=522/AC=270/CC=48

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
External ID dbSNP
Exon 4
DNA change c.626G>C   (View in UCSC Genome Browser, Ensembl)
Type Substitution
Mutation effect Missense
Protein p.(Arg209Thr)
PolyPhen 2 Benign
Frequency -
DB-ID TNFRSF10A_00003

2 entries in TNFRSF10A

Path.
Allele Descending
Ascending
External ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
PolyPhen 2 Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown dbSNP 4 c.626G>C Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003
?/? Unknown dbSNP 5 c.683A>C Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005