1-151134828-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_030913.6(SEMA6C):āc.1628G>Cā(p.Arg543Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00398 in 1,614,184 control chromosomes in the GnomAD database, including 218 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
NM_030913.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SEMA6C | NM_030913.6 | c.1628G>C | p.Arg543Thr | missense_variant | 16/19 | ENST00000368914.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEMA6C | ENST00000368914.8 | c.1628G>C | p.Arg543Thr | missense_variant | 16/19 | 1 | NM_030913.6 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0210 AC: 3200AN: 152200Hom.: 102 Cov.: 32
GnomAD3 exomes AF: 0.00565 AC: 1421AN: 251472Hom.: 60 AF XY: 0.00411 AC XY: 559AN XY: 135908
GnomAD4 exome AF: 0.00219 AC: 3208AN: 1461866Hom.: 116 Cov.: 32 AF XY: 0.00189 AC XY: 1371AN XY: 727238
GnomAD4 genome ? AF: 0.0211 AC: 3209AN: 152318Hom.: 102 Cov.: 32 AF XY: 0.0207 AC XY: 1542AN XY: 74482
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | May 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at