rs4704870
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001099287.2(NIPAL4):c.1116T>A(p.Val372=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. V372V) has been classified as Benign.
Frequency
Consequence
NM_001099287.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NIPAL4 | NM_001099287.2 | c.1116T>A | p.Val372= | synonymous_variant | 6/6 | ENST00000311946.8 | |
NIPAL4 | NM_001172292.2 | c.1059T>A | p.Val353= | synonymous_variant | 5/5 | ||
NIPAL4 | XM_011534552.2 | c.807T>A | p.Val269= | synonymous_variant | 6/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NIPAL4 | ENST00000311946.8 | c.1116T>A | p.Val372= | synonymous_variant | 6/6 | 1 | NM_001099287.2 | P1 | |
NIPAL4 | ENST00000435489.7 | c.1059T>A | p.Val353= | synonymous_variant | 5/5 | 2 | |||
ADAM19 | ENST00000517951.5 | c.*1741+15404A>T | intron_variant, NMD_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1421316Hom.: 0 Cov.: 42 AF XY: 0.00 AC XY: 0AN XY: 700960
GnomAD4 genome ? Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at