rs35885783
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BS2_Supporting
The NM_000184.3(HBG2):c.103G>A(p.Val35Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000124 in 1,612,916 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as other (no stars). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V35A) has been classified as Uncertain significance.
Frequency
Consequence
NM_000184.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HBG2 | ENST00000336906.6 | c.103G>A | p.Val35Ile | missense_variant | Exon 2 of 3 | 1 | NM_000184.3 | ENSP00000338082.4 | ||
ENSG00000284931 | ENST00000642908.1 | c.103G>A | p.Val35Ile | missense_variant | Exon 2 of 3 | ENSP00000495346.1 | ||||
ENSG00000239920 | ENST00000380259.7 | n.*1406G>A | non_coding_transcript_exon_variant | Exon 8 of 8 | 5 | ENSP00000369609.3 | ||||
ENSG00000239920 | ENST00000380259.7 | n.*1406G>A | 3_prime_UTR_variant | Exon 8 of 8 | 5 | ENSP00000369609.3 |
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151702Hom.: 0 Cov.: 31
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461214Hom.: 0 Cov.: 34 AF XY: 0.0000151 AC XY: 11AN XY: 726948
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151702Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74020
ClinVar
Submissions by phenotype
HEMOGLOBIN F (TOKYO) Other:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at