NM_017868.4:c.217A>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_017868.4(TTC12):c.217A>C(p.Met73Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.477 in 1,573,520 control chromosomes in the GnomAD database, including 184,062 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_017868.4 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: 0.398 AC: 60535AN: 151910Hom.: 13575 Cov.: 32
GnomAD3 exomes AF: 0.468 AC: 104013AN: 222224Hom.: 25067 AF XY: 0.475 AC XY: 57559AN XY: 121080
GnomAD4 exome AF: 0.486 AC: 690734AN: 1421492Hom.: 170491 Cov.: 32 AF XY: 0.486 AC XY: 343907AN XY: 707032
GnomAD4 genome AF: 0.398 AC: 60531AN: 152028Hom.: 13571 Cov.: 32 AF XY: 0.398 AC XY: 29546AN XY: 74308
ClinVar
Submissions by phenotype
not provided Benign:2
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Ciliary dyskinesia, primary, 45 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at