chr11-35432700-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001001991.3(PAMR1):c.1819G>A(p.Val607Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,613,608 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001001991.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PAMR1 | NM_001001991.3 | c.1819G>A | p.Val607Met | missense_variant | 11/11 | ENST00000619888.5 | |
PAMR1 | NM_015430.4 | c.1870G>A | p.Val624Met | missense_variant | 12/12 | ||
PAMR1 | NM_001282675.2 | c.1699G>A | p.Val567Met | missense_variant | 13/13 | ||
PAMR1 | NM_001282676.2 | c.1486G>A | p.Val496Met | missense_variant | 9/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PAMR1 | ENST00000619888.5 | c.1819G>A | p.Val607Met | missense_variant | 11/11 | 1 | NM_001001991.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000797 AC: 20AN: 250948Hom.: 0 AF XY: 0.0000959 AC XY: 13AN XY: 135588
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461388Hom.: 0 Cov.: 32 AF XY: 0.0000358 AC XY: 26AN XY: 726928
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74364
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at