7-85006842-T-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001384900.1(SEMA3D):c.1868A>C(p.Lys623Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000147 in 1,611,064 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★★).
Frequency
Consequence
NM_001384900.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SEMA3D | NM_001384900.1 | c.1868A>C | p.Lys623Thr | missense_variant | 18/19 | ENST00000284136.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SEMA3D | ENST00000284136.11 | c.1868A>C | p.Lys623Thr | missense_variant | 18/19 | 5 | NM_001384900.1 | P1 | |
SEMA3D | ENST00000484038.1 | n.994A>C | non_coding_transcript_exon_variant | 9/10 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.000125 AC: 19AN: 151958Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000759 AC: 19AN: 250190Hom.: 0 AF XY: 0.0000591 AC XY: 8AN XY: 135312
GnomAD4 exome AF: 0.000149 AC: 218AN: 1459106Hom.: 0 Cov.: 30 AF XY: 0.000165 AC XY: 120AN XY: 725892
GnomAD4 genome ? AF: 0.000125 AC: 19AN: 151958Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 5AN XY: 74216
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | May 24, 2023 | The c.1868A>C (p.K623T) alteration is located in exon 16 (coding exon 16) of the SEMA3D gene. This alteration results from a A to C substitution at nucleotide position 1868, causing the lysine (K) at amino acid position 623 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
SEMA3D-related disorder Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Jan 09, 2024 | The SEMA3D c.1868A>C variant is predicted to result in the amino acid substitution p.Lys623Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.017% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at