7-143408735-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_005232.5(EPHA1):c.71G>A(p.Arg24His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0223 in 948,062 control chromosomes in the GnomAD database, including 1,638 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005232.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0269 AC: 3972AN: 147856Hom.: 290 Cov.: 26
GnomAD4 exome AF: 0.0214 AC: 17160AN: 800100Hom.: 1346 Cov.: 11 AF XY: 0.0213 AC XY: 8170AN XY: 383330
GnomAD4 genome AF: 0.0269 AC: 3980AN: 147962Hom.: 292 Cov.: 26 AF XY: 0.0307 AC XY: 2217AN XY: 72104
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at