rs362331
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 1P and 14B. PP2BP4_StrongBP6_ModerateBA1
The NM_001388492.1(HTT):āc.6925T>Cā(p.Tyr2309His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.428 in 1,568,922 control chromosomes in the GnomAD database, including 146,149 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 (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001388492.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HTT | NM_001388492.1 | c.6925T>C | p.Tyr2309His | missense_variant | 50/67 | ENST00000355072.11 | |
HTT | NM_002111.8 | c.6931T>C | p.Tyr2311His | missense_variant | 50/67 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HTT | ENST00000355072.11 | c.6925T>C | p.Tyr2309His | missense_variant | 50/67 | 1 | NM_001388492.1 | P2 |
Frequencies
GnomAD3 genomes AF: 0.469 AC: 71325AN: 151946Hom.: 17389 Cov.: 32
GnomAD3 exomes AF: 0.429 AC: 97562AN: 227262Hom.: 21568 AF XY: 0.421 AC XY: 52199AN XY: 123886
GnomAD4 exome AF: 0.424 AC: 600684AN: 1416858Hom.: 128724 Cov.: 35 AF XY: 0.420 AC XY: 295062AN XY: 702384
GnomAD4 genome AF: 0.470 AC: 71410AN: 152064Hom.: 17425 Cov.: 32 AF XY: 0.467 AC XY: 34725AN XY: 74360
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at