NM_014363.6:c.7149C>T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_014363.6(SACS):c.7149C>T(p.Arg2383Arg) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00492 in 1,613,684 control chromosomes in the GnomAD database, including 92 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_014363.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0131 AC: 1984AN: 151994Hom.: 26 Cov.: 33
GnomAD3 exomes AF: 0.00724 AC: 1813AN: 250430Hom.: 27 AF XY: 0.00678 AC XY: 919AN XY: 135586
GnomAD4 exome AF: 0.00407 AC: 5954AN: 1461572Hom.: 65 Cov.: 37 AF XY: 0.00393 AC XY: 2858AN XY: 727094
GnomAD4 genome AF: 0.0131 AC: 1992AN: 152112Hom.: 27 Cov.: 33 AF XY: 0.0141 AC XY: 1050AN XY: 74378
ClinVar
Submissions by phenotype
not provided Benign:3
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Charlevoix-Saguenay spastic ataxia Benign:2
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This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. -
Spastic paraplegia Benign:1
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not specified Benign:1
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Hereditary spastic paraplegia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at