1-204997300-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001005388.3(NFASC):c.2913C>G(p.Ile971Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.29 in 1,602,174 control chromosomes in the GnomAD database, including 69,032 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. I971I) has been classified as Likely benign.
Frequency
Consequence
NM_001005388.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.275 AC: 41709AN: 151878Hom.: 5904 Cov.: 31
GnomAD3 exomes AF: 0.305 AC: 68054AN: 223492Hom.: 10498 AF XY: 0.305 AC XY: 37288AN XY: 122060
GnomAD4 exome AF: 0.291 AC: 422427AN: 1450178Hom.: 63118 Cov.: 37 AF XY: 0.292 AC XY: 210257AN XY: 720660
GnomAD4 genome AF: 0.275 AC: 41730AN: 151996Hom.: 5914 Cov.: 31 AF XY: 0.280 AC XY: 20829AN XY: 74300
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at