NM_012193.4:c.205C>T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 2P and 10B. PM1BP4_ModerateBS1BS2
The NM_012193.4(FZD4):c.205C>T(p.His69Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000314 in 1,613,404 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_012193.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000224 AC: 34AN: 152104Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000520 AC: 128AN: 246338Hom.: 0 AF XY: 0.000515 AC XY: 69AN XY: 133980
GnomAD4 exome AF: 0.000323 AC: 472AN: 1461182Hom.: 2 Cov.: 33 AF XY: 0.000326 AC XY: 237AN XY: 726918
GnomAD4 genome AF: 0.000223 AC: 34AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74414
ClinVar
Submissions by phenotype
not provided Benign:2
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Exudative vitreoretinopathy 1 Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Retinal dystrophy Uncertain:1
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at