11-35180295-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_000610.4(CD44):c.255C>T(p.His85His) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.162 in 1,613,426 control chromosomes in the GnomAD database, including 22,209 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000610.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.164 AC: 24972AN: 151992Hom.: 2176 Cov.: 31
GnomAD3 exomes AF: 0.162 AC: 40768AN: 251238Hom.: 3568 AF XY: 0.163 AC XY: 22143AN XY: 135784
GnomAD4 exome AF: 0.161 AC: 235773AN: 1461316Hom.: 20027 Cov.: 33 AF XY: 0.162 AC XY: 117637AN XY: 727006
GnomAD4 genome AF: 0.164 AC: 25009AN: 152110Hom.: 2182 Cov.: 31 AF XY: 0.162 AC XY: 12054AN XY: 74342
ClinVar
Submissions by phenotype
CD44-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at