rs150922478
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 2P and 9B. PM2BP4_StrongBP6BS1
The NM_003638.3(ITGA8):c.3079G>A(p.Ala1027Thr) variant causes a missense change. The variant allele was found at a frequency of 0.000463 in 1,613,460 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_003638.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000533 AC: 81AN: 152072Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000669 AC: 168AN: 251100Hom.: 1 AF XY: 0.000604 AC XY: 82AN XY: 135702
GnomAD4 exome AF: 0.000456 AC: 666AN: 1461388Hom.: 1 Cov.: 31 AF XY: 0.000435 AC XY: 316AN XY: 726982
GnomAD4 genome AF: 0.000533 AC: 81AN: 152072Hom.: 0 Cov.: 33 AF XY: 0.000485 AC XY: 36AN XY: 74272
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.3079G>A (p.A1027T) alteration is located in exon 29 (coding exon 29) of the ITGA8 gene. This alteration results from a G to A substitution at nucleotide position 3079, causing the alanine (A) at amino acid position 1027 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at