rs35203445
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000558.5(HBA1):āc.104T>Cā(p.Leu35Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L35R) has been classified as Likely benign.
Frequency
Consequence
NM_000558.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HBA1 | ENST00000320868.9 | c.104T>C | p.Leu35Pro | missense_variant | 2/3 | 1 | NM_000558.5 | ENSP00000322421.5 | ||
HBA1 | ENST00000472694.1 | n.240T>C | non_coding_transcript_exon_variant | 1/2 | 1 | |||||
HBA1 | ENST00000487791.1 | n.73T>C | non_coding_transcript_exon_variant | 2/2 | 1 | |||||
HBA1 | ENST00000397797.1 | c.8T>C | p.Leu3Pro | missense_variant | 2/3 | 2 | ENSP00000380899.1 |
Frequencies
GnomAD3 genomes Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000106 AC: 1AN: 939048Hom.: 0 Cov.: 13 AF XY: 0.00000208 AC XY: 1AN XY: 481240
GnomAD4 genome Cov.: 29
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at