rs77314619
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_005876.5(SPEG):c.7810C>T(p.Leu2604Phe) variant causes a missense change. The variant allele was found at a frequency of 0.00411 in 1,613,486 control chromosomes in the GnomAD database, including 17 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars). Synonymous variant affecting the same amino acid position (i.e. L2604L) has been classified as Likely benign.
Frequency
Consequence
NM_005876.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SPEG | NM_005876.5 | c.7810C>T | p.Leu2604Phe | missense_variant | 32/41 | ENST00000312358.12 | |
ASIC4-AS1 | XR_923921.2 | n.392-5853G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SPEG | ENST00000312358.12 | c.7810C>T | p.Leu2604Phe | missense_variant | 32/41 | 5 | NM_005876.5 | P1 | |
ASIC4-AS1 | ENST00000429882.1 | n.183-5853G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
SPEG | ENST00000485813.5 | n.7053C>T | non_coding_transcript_exon_variant | 30/39 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00544 AC: 828AN: 152174Hom.: 6 Cov.: 33
GnomAD3 exomes AF: 0.00308 AC: 767AN: 248862Hom.: 2 AF XY: 0.00301 AC XY: 406AN XY: 135054
GnomAD4 exome AF: 0.00397 AC: 5808AN: 1461194Hom.: 11 Cov.: 31 AF XY: 0.00384 AC XY: 2795AN XY: 726940
GnomAD4 genome AF: 0.00542 AC: 826AN: 152292Hom.: 6 Cov.: 33 AF XY: 0.00524 AC XY: 390AN XY: 74476
ClinVar
Submissions by phenotype
not provided Benign:2
Likely benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Jul 01, 2024 | SPEG: BP4, BS2 - |
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 26, 2024 | - - |
Myopathy, centronuclear, 5 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 31, 2018 | - - |
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Dec 04, 2017 | - - |
SPEG-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | May 31, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at