9-136853568-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_206920.3(MAMDC4):c.352C>T(p.His118Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,460,268 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. H118D) has been classified as Uncertain significance.
Frequency
Consequence
NM_206920.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MAMDC4 | ENST00000317446.7 | c.352C>T | p.His118Tyr | missense_variant | Exon 4 of 27 | 1 | NM_206920.3 | ENSP00000319388.2 | ||
MAMDC4 | ENST00000485732.5 | n.682C>T | non_coding_transcript_exon_variant | Exon 5 of 25 | 1 | |||||
MAMDC4 | ENST00000445819.5 | c.352C>T | p.His118Tyr | missense_variant | Exon 4 of 29 | 5 | ENSP00000411339.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249110Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135352
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460268Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 726434
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at