chr9-137449558-C-T
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001130969.3(NSMF):c.1495+41G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0389 in 1,610,752 control chromosomes in the GnomAD database, including 3,236 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001130969.3 intron
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: 0.0866 AC: 13181AN: 152136Hom.: 1173 Cov.: 33
GnomAD3 exomes AF: 0.0542 AC: 13404AN: 247406Hom.: 850 AF XY: 0.0519 AC XY: 6969AN XY: 134382
GnomAD4 exome AF: 0.0339 AC: 49503AN: 1458498Hom.: 2058 Cov.: 30 AF XY: 0.0346 AC XY: 25129AN XY: 725598
GnomAD4 genome AF: 0.0867 AC: 13208AN: 152254Hom.: 1178 Cov.: 33 AF XY: 0.0868 AC XY: 6461AN XY: 74456
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at