rs2737085
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001394928.1(ITGA6):āc.2413G>Cā(p.Asp805His) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,611,422 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. D805Y) has been classified as Benign.
Frequency
Consequence
NM_001394928.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ITGA6 | NM_001394928.1 | c.2413G>C | p.Asp805His | missense_variant | 18/26 | ENST00000442250.6 | |
ITGA6 | NM_000210.4 | c.2296G>C | p.Asp766His | missense_variant | 17/26 | ENST00000684293.1 | |
LOC124900513 | XR_007087304.1 | n.704-6758C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ITGA6 | ENST00000442250.6 | c.2413G>C | p.Asp805His | missense_variant | 18/26 | 5 | NM_001394928.1 | ||
ITGA6 | ENST00000684293.1 | c.2296G>C | p.Asp766His | missense_variant | 17/26 | NM_000210.4 | P3 | ||
PDK1-AS1 | ENST00000442417.5 | n.769-6758C>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.00000411 AC: 6AN: 1459378Hom.: 0 Cov.: 30 AF XY: 0.00000413 AC XY: 3AN XY: 726196
GnomAD4 genome ? AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74260
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at