rs1246785384
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002150.3(HPD):āc.109T>Gā(p.Cys37Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,612,866 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. C37R) has been classified as Uncertain significance.
Frequency
Consequence
NM_002150.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HPD | NM_002150.3 | c.109T>G | p.Cys37Gly | missense_variant | 4/14 | ENST00000289004.8 | |
LOC105370035 | XR_002957437.2 | n.395-202A>C | intron_variant, non_coding_transcript_variant | ||||
HPD | NM_001171993.2 | c.-9T>G | 5_prime_UTR_variant | 6/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HPD | ENST00000289004.8 | c.109T>G | p.Cys37Gly | missense_variant | 4/14 | 1 | NM_002150.3 | P1 | |
HPD | ENST00000543163.5 | c.-9T>G | 5_prime_UTR_variant | 5/15 | 5 | ||||
HPD | ENST00000535114.1 | n.465T>G | non_coding_transcript_exon_variant | 3/4 | 4 | ||||
HPD | ENST00000542159.2 | n.167T>G | non_coding_transcript_exon_variant | 1/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152128Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460738Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726744
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152128Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74308
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at