4-122174642-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001384125.1(BLTP1):āc.283A>Gā(p.Met95Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000807 in 1,597,574 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001384125.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BLTP1 | NM_001384125.1 | c.283A>G | p.Met95Val | missense_variant | Exon 5 of 88 | ENST00000679879.1 | NP_001371054.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BLTP1 | ENST00000679879.1 | c.283A>G | p.Met95Val | missense_variant | Exon 5 of 88 | NM_001384125.1 | ENSP00000505357.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000972 AC: 24AN: 246906Hom.: 0 AF XY: 0.0000896 AC XY: 12AN XY: 133996
GnomAD4 exome AF: 0.0000837 AC: 121AN: 1445390Hom.: 0 Cov.: 27 AF XY: 0.0000764 AC XY: 55AN XY: 719976
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.0000538 AC XY: 4AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
This sequence change does not appear to have been previously described in individuals with KIAA1109-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.0090% (dbSNP rs199640893). The p.Met95Val change affects a poorly conserved amino acid residue located in a domain of the KIAA1109 protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Met95Val substitution. Due to insufficient evidence and the lack of functional studies, the clinical significance of the p.Met95Val change remains unknown at this time. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at