2-231087147-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_002807.4(PSMD1):c.1849G>A(p.Ala617Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000868 in 1,613,482 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002807.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PSMD1 | NM_002807.4 | c.1849G>A | p.Ala617Thr | missense_variant | Exon 16 of 25 | ENST00000308696.11 | NP_002798.2 | |
PSMD1 | NM_001191037.2 | c.1849G>A | p.Ala617Thr | missense_variant | Exon 16 of 24 | NP_001177966.1 | ||
PSMD1 | XM_017004517.3 | c.1849G>A | p.Ala617Thr | missense_variant | Exon 16 of 18 | XP_016860006.1 | ||
PSMD1 | NR_034059.2 | n.1838G>A | non_coding_transcript_exon_variant | Exon 15 of 24 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152112Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000797 AC: 2AN: 251090Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135712
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461370Hom.: 0 Cov.: 30 AF XY: 0.00000825 AC XY: 6AN XY: 727014
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152112Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74316
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1849G>A (p.A617T) alteration is located in exon 16 (coding exon 16) of the PSMD1 gene. This alteration results from a G to A substitution at nucleotide position 1849, causing the alanine (A) at amino acid position 617 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at