rs374569092
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_000183.3(HADHB):c.423C>A(p.Ala141=) 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. A141A) has been classified as Likely benign.
Frequency
Consequence
NM_000183.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HADHB | NM_000183.3 | c.423C>A | p.Ala141= | synonymous_variant | 7/16 | ENST00000317799.10 | |
HADHB | NM_001281512.2 | c.378C>A | p.Ala126= | synonymous_variant | 6/15 | ||
HADHB | NM_001281513.2 | c.357C>A | p.Ala119= | synonymous_variant | 8/17 | ||
HADHB | XM_011532803.2 | c.423C>A | p.Ala141= | synonymous_variant | 7/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HADHB | ENST00000317799.10 | c.423C>A | p.Ala141= | synonymous_variant | 7/16 | 1 | NM_000183.3 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 1425582Hom.: 0 Cov.: 26 AF XY: 0.00 AC XY: 0AN XY: 711576
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at