rs375029639
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 2P and 14B. PM2BP4_ModerateBP6_Very_StrongBS1
The NM_000337.6(SGCD):c.817C>T(p.Leu273=) variant causes a synonymous change. The variant allele was found at a frequency of 0.0000223 in 1,613,232 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L273L) has been classified as Likely benign.
Frequency
Consequence
NM_000337.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SGCD | NM_000337.6 | c.817C>T | p.Leu273= | synonymous_variant | 9/9 | ENST00000337851.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SGCD | ENST00000337851.9 | c.817C>T | p.Leu273= | synonymous_variant | 9/9 | 1 | NM_000337.6 | P4 | |
SGCD | ENST00000435422.7 | c.814C>T | p.Leu272= | synonymous_variant | 8/8 | 1 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.000145 AC: 22AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248658Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134896
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1460924Hom.: 0 Cov.: 30 AF XY: 0.00000550 AC XY: 4AN XY: 726714
GnomAD4 genome ? AF: 0.000144 AC: 22AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000940 AC XY: 7AN XY: 74472
ClinVar
Submissions by phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2F Benign:2
Likely benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Feb 08, 2023 | - - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Sep 08, 2023 | - - |
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 03, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Oct 27, 2020 | - - |
Dilated cardiomyopathy 1L Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genome-Nilou Lab | Feb 08, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at