rs1071695
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_000610.4(CD44):c.255C>A(p.His85Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000266 in 1,613,782 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/22 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. H85H) has been classified as Likely benign.
Frequency
Consequence
NM_000610.4 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 152022Hom.: 0 Cov.: 31 show subpopulations
GnomAD2 exomes AF: 0.0000159 AC: 4AN: 251238 AF XY: 0.0000295 show subpopulations
GnomAD4 exome AF: 0.0000280 AC: 41AN: 1461760Hom.: 0 Cov.: 33 AF XY: 0.0000289 AC XY: 21AN XY: 727190 show subpopulations
GnomAD4 genome AF: 0.0000132 AC: 2AN: 152022Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74238 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at