rs1242699041
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_ModerateBP6_ModerateBP7
The NM_005585.5(SMAD6):āc.192C>Gā(p.Ala64=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000891 in 1,121,820 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 (ā ). Synonymous variant affecting the same amino acid position (i.e. A64A) has been classified as Likely benign.
Frequency
Consequence
NM_005585.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SMAD6 | NM_005585.5 | c.192C>G | p.Ala64= | synonymous_variant | 1/4 | ENST00000288840.10 | |
SMAD6 | NR_027654.2 | n.1215C>G | non_coding_transcript_exon_variant | 1/5 | |||
SMAD6 | XR_931827.3 | n.1215C>G | non_coding_transcript_exon_variant | 1/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SMAD6 | ENST00000288840.10 | c.192C>G | p.Ala64= | synonymous_variant | 1/4 | 1 | NM_005585.5 | P1 | |
SMAD6 | ENST00000557916.5 | c.192C>G | p.Ala64= | synonymous_variant, NMD_transcript_variant | 1/5 | 1 | |||
SMAD6 | ENST00000612349.1 | n.374C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 8.91e-7 AC: 1AN: 1121820Hom.: 0 Cov.: 32 AF XY: 0.00000187 AC XY: 1AN XY: 535518
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Aortic valve disease 2 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jul 31, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.