NM_030954.4:c.374G>A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_030954.4(RNF170):c.374G>A(p.Ser125Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00383 in 1,613,544 control chromosomes in the GnomAD database, including 48 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_030954.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00368 AC: 559AN: 152072Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00476 AC: 1196AN: 251134Hom.: 7 AF XY: 0.00536 AC XY: 728AN XY: 135798
GnomAD4 exome AF: 0.00384 AC: 5617AN: 1461354Hom.: 43 Cov.: 29 AF XY: 0.00408 AC XY: 2968AN XY: 727042
GnomAD4 genome AF: 0.00367 AC: 558AN: 152190Hom.: 5 Cov.: 32 AF XY: 0.00391 AC XY: 291AN XY: 74406
ClinVar
Submissions by phenotype
not provided Benign:3
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RNF170: BS2 -
not specified Benign:1
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Autosomal dominant sensory ataxia 1 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at