chr1-25300968-T-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_016124.6(RHD):c.509T>C(p.Met170Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000156 in 1,378,896 control chromosomes in the GnomAD database, including 34 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as no classification for the single variant (no stars).
Frequency
Consequence
NM_016124.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RHD | NM_016124.6 | c.509T>C | p.Met170Thr | missense_variant | 4/10 | ENST00000328664.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RHD | ENST00000328664.9 | c.509T>C | p.Met170Thr | missense_variant | 4/10 | 1 | NM_016124.6 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000795 AC: 105AN: 132132Hom.: 18 Cov.: 21
GnomAD3 exomes AF: 0.000249 AC: 56AN: 224854Hom.: 13 AF XY: 0.000116 AC XY: 14AN XY: 121138
GnomAD4 exome AF: 0.0000866 AC: 108AN: 1246646Hom.: 16 Cov.: 31 AF XY: 0.0000643 AC XY: 40AN XY: 621768
GnomAD4 genome ? AF: 0.000809 AC: 107AN: 132250Hom.: 18 Cov.: 21 AF XY: 0.000865 AC XY: 56AN XY: 64750
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at