13-23324525-A-G
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBA1
The NM_000231.3(SGCG):c.860A>G(p.Asn287Ser) variant causes a missense change. The variant allele was found at a frequency of 0.873 in 1,611,402 control chromosomes in the GnomAD database, including 615,354 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 (★★).
Frequency
Consequence
NM_000231.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.843 AC: 128032AN: 151806Hom.: 54383 Cov.: 29
GnomAD3 exomes AF: 0.886 AC: 222275AN: 250754Hom.: 98962 AF XY: 0.888 AC XY: 120406AN XY: 135572
GnomAD4 exome AF: 0.876 AC: 1278246AN: 1459478Hom.: 560939 Cov.: 49 AF XY: 0.877 AC XY: 636522AN XY: 726134
GnomAD4 genome AF: 0.843 AC: 128121AN: 151924Hom.: 54415 Cov.: 29 AF XY: 0.849 AC XY: 63055AN XY: 74248
ClinVar
Submissions by phenotype
not specified Benign:5
This is a RefSeq error. The reference base (c.860A) is the minor allele. This al lele (A) has been identified in 13% (1142/8600) of European American chromosomes and 27% (1185/4406) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs1800354) and thus meets c riteria to be classified as benign. -
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Autosomal recessive limb-girdle muscular dystrophy type 2C Benign:5
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not provided Benign:1
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Charlevoix-Saguenay spastic ataxia Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at