9-35105249-T-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_025182.4(ATOSB):c.1589A>T(p.His530Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000477 in 1,613,732 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (★).
Frequency
Consequence
NM_025182.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000215 AC: 54AN: 250972Hom.: 0 AF XY: 0.000184 AC XY: 25AN XY: 135658
GnomAD4 exome AF: 0.0000438 AC: 64AN: 1461510Hom.: 0 Cov.: 31 AF XY: 0.0000426 AC XY: 31AN XY: 727024
GnomAD4 genome AF: 0.0000854 AC: 13AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74378
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1589A>T (p.H530L) alteration is located in exon 9 (coding exon 7) of the FAM214B gene. This alteration results from a A to T substitution at nucleotide position 1589, causing the histidine (H) at amino acid position 530 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at