rs761659830
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_005333.5(HCCS):c.94A>G(p.Met32Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000158 in 1,072,854 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 9 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 14/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. M32L) has been classified as Likely benign.
Frequency
Consequence
NM_005333.5 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 |
---|---|---|---|---|---|---|---|
HCCS | NM_005333.5 | c.94A>G | p.Met32Val | missense_variant | 2/7 | ENST00000380762.5 | |
HCCS | NM_001122608.3 | c.94A>G | p.Met32Val | missense_variant | 2/7 | ||
HCCS | NM_001171991.3 | c.94A>G | p.Met32Val | missense_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HCCS | ENST00000380762.5 | c.94A>G | p.Met32Val | missense_variant | 2/7 | 1 | NM_005333.5 | P1 | |
HCCS | ENST00000380763.7 | c.94A>G | p.Met32Val | missense_variant | 2/7 | 1 | P1 | ||
HCCS | ENST00000321143.8 | c.94A>G | p.Met32Val | missense_variant | 2/7 | 2 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 24
GnomAD3 exomes AF: 0.0000710 AC: 13AN: 183154Hom.: 0 AF XY: 0.000118 AC XY: 8AN XY: 67622
GnomAD4 exome AF: 0.0000158 AC: 17AN: 1072854Hom.: 0 Cov.: 27 AF XY: 0.0000265 AC XY: 9AN XY: 339884
GnomAD4 genome ? Cov.: 24
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at