chr6-31271601-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002117.6(HLA-C):c.341A>G(p.Asp114Gly) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000922 in 1,084,206 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. 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. D114A) has been classified as Likely benign.
Frequency
Consequence
NM_002117.6 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLA-C | NM_002117.6 | c.341A>G | p.Asp114Gly | missense_variant, splice_region_variant | 2/8 | ENST00000376228.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-C | ENST00000376228.10 | c.341A>G | p.Asp114Gly | missense_variant, splice_region_variant | 2/8 | NM_002117.6 | P4 |
Frequencies
GnomAD3 genomes ? Cov.: 7
GnomAD4 exome AF: 9.22e-7 AC: 1AN: 1084206Hom.: 0 Cov.: 30 AF XY: 0.00000184 AC XY: 1AN XY: 542078
GnomAD4 genome ? Cov.: 7
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at