rs28997583
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006306.4(SMC1A):c.3663C>T(p.Thr1221=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000224 in 1,206,337 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 6 hemizygotes in GnomAD. 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. T1221T) has been classified as Likely benign.
Frequency
Consequence
NM_006306.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMC1A | NM_006306.4 | c.3663C>T | p.Thr1221= | synonymous_variant | 25/25 | ENST00000322213.9 | |
SMC1A | NM_001281463.1 | c.3597C>T | p.Thr1199= | synonymous_variant | 26/26 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMC1A | ENST00000322213.9 | c.3663C>T | p.Thr1221= | synonymous_variant | 25/25 | 1 | NM_006306.4 | P1 | |
SMC1A | ENST00000375340.10 | c.3597C>T | p.Thr1199= | synonymous_variant | 26/26 | 1 | |||
SMC1A | ENST00000675504.1 | c.3597C>T | p.Thr1199= | synonymous_variant | 25/25 | ||||
SMC1A | ENST00000674590.1 | c.2895C>T | p.Thr965= | synonymous_variant | 23/23 |
Frequencies
GnomAD3 genomes ? AF: 0.00000903 AC: 1AN: 110687Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 32893
GnomAD3 exomes AF: 0.000116 AC: 21AN: 180454Hom.: 0 AF XY: 0.0000606 AC XY: 4AN XY: 65982
GnomAD4 exome AF: 0.0000237 AC: 26AN: 1095650Hom.: 0 Cov.: 28 AF XY: 0.0000166 AC XY: 6AN XY: 361246
GnomAD4 genome ? AF: 0.00000903 AC: 1AN: 110687Hom.: 0 Cov.: 23 AF XY: 0.00 AC XY: 0AN XY: 32893
ClinVar
Submissions by phenotype
Congenital muscular hypertrophy-cerebral syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 06, 2024 | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Dec 02, 2020 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at