11-35208126-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_000610.4(CD44):c.1436T>C(p.Ile479Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.836 in 1,606,644 control chromosomes in the GnomAD database, including 564,645 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000610.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CD44 | NM_000610.4 | c.1436T>C | p.Ile479Thr | missense_variant | 12/18 | ENST00000428726.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CD44 | ENST00000428726.8 | c.1436T>C | p.Ile479Thr | missense_variant | 12/18 | 1 | NM_000610.4 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.878 AC: 133510AN: 152142Hom.: 58984 Cov.: 33
GnomAD3 exomes AF: 0.881 AC: 221102AN: 251076Hom.: 97954 AF XY: 0.878 AC XY: 119178AN XY: 135678
GnomAD4 exome AF: 0.831 AC: 1209307AN: 1454384Hom.: 505596 Cov.: 32 AF XY: 0.835 AC XY: 604401AN XY: 723996
GnomAD4 genome ? AF: 0.878 AC: 133633AN: 152260Hom.: 59049 Cov.: 33 AF XY: 0.883 AC XY: 65757AN XY: 74440
ClinVar
Submissions by phenotype
CD44-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 16, 2019 | 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