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rs80338885

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 1 Likely miscall in DNA chip data; see text of main rs-page
(G;G) 0 common in clinvar


Make rs80338885(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position100628294
GeneTFR2
is asnp
is mentioned by
dbSNPrs80338885
dbSNP (classic)rs80338885
ClinGenrs80338885
ebirs80338885
HLIrs80338885
Exacrs80338885
Gnomadrs80338885
Varsomers80338885
LitVarrs80338885
Maprs80338885
PheGenIrs80338885
Biobankrs80338885
1000 genomesrs80338885
hgdprs80338885
ensemblrs80338885
geneviewrs80338885
scholarrs80338885
googlers80338885
pharmgkbrs80338885
gwascentralrs80338885
openSNPrs80338885
23andMers80338885
23andMe allrs80338885
SNPshotrs80338885
SNPdbers80338885
MSV3drs80338885
GWAS Ctlgrs80338885
Max Magnitude1

aka c.1403G>A (p.Arg468His or R468H)

Considered to be a variant of uncertain significance by the (only) submitter to ClinVar; presumably a recessive mutation.

A survey of non-HFE HH mutations in large-scale sequencing databases concludes that they are likely to be very rare (with heterozygote carrier frequencies of perhaps 1 in 1000 and homozygote frequencies less than 1 in a million for most). Of note, rs80338885 was listed as one of the 49 TFR2 gene variants considered pathogenic in this survey but it was not observed in any sequence; this implies that the ~1 in 500 frequency heterozygote frequency observed in DNA chip data among Promethease users is too high to be credible.[PMID 26633544OA-icon.png]

ClinVar
Risk rs80338885(A;A)
Alt rs80338885(A;A)
Reference Rs80338885(G;G)
Significance Pathogenic
Disease Hemochromatosis type 3 Hemochromatosis type 1 not specified
Variation info
Gene TFR2
CLNDBN Hemochromatosis type 3 Hemochromatosis type 1 not specified
Reversed 1
HGVS NC_000007.13:g.100225917C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020538.1, RCV000205036.1, RCV000260840.1,


[PMID 17562347] A novel mutation of transferrin receptor 2 in a Taiwanese woman with type 3 hemochromatosis.