rs34802738
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_000519.4(HBD):c.401T>C(p.Val134Ala) variant causes a missense change. The variant allele was found at a frequency of 0.0000041 in 1,461,804 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 other (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000519.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HBD | NM_000519.4 | c.401T>C | p.Val134Ala | missense_variant | 3/3 | ENST00000650601.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HBD | ENST00000650601.1 | c.401T>C | p.Val134Ala | missense_variant | 3/3 | NM_000519.4 | P1 | ||
HBD | ENST00000643122.1 | c.401T>C | p.Val134Ala | missense_variant | 4/4 | P1 | |||
HBD | ENST00000417377.1 | c.178T>C | p.Trp60Arg | missense_variant | 2/2 | 3 | |||
HBD | ENST00000292901.7 | c.316-209T>C | intron_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000410 AC: 6AN: 1461804Hom.: 0 Cov.: 32 AF XY: 0.00000413 AC XY: 3AN XY: 727212
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
HEMOGLOBIN A(2) NINIVE Other:1
other, no assertion criteria provided | literature only | OMIM | Dec 12, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at