chr11-118134242-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_174934.4(SCN4B):c.*2785C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00195 in 454,146 control chromosomes in the GnomAD database, including 5 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.0046 ( 4 hom., cov: 33)
Exomes 𝑓: 0.00062 ( 1 hom. )
Consequence
SCN4B
NM_174934.4 3_prime_UTR
NM_174934.4 3_prime_UTR
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.341
Genes affected
SCN4B (HGNC:10592): (sodium voltage-gated channel beta subunit 4) The protein encoded by this gene is one of several sodium channel beta subunits. These subunits interact with voltage-gated alpha subunits to change sodium channel kinetics. The encoded transmembrane protein forms interchain disulfide bonds with SCN2A. Defects in this gene are a cause of long QT syndrome type 10 (LQT10). Three protein-coding and one non-coding transcript variant have been found for this gene.[provided by RefSeq, Mar 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BP6
?
Variant 11-118134242-G-A is Benign according to our data. Variant chr11-118134242-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 302593.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population afr. gnomad4 allele frequency = 0.00459 (699/152338) while in subpopulation AFR AF= 0.0161 (669/41574). AF 95% confidence interval is 0.0151. There are 4 homozygotes in gnomad4. There are 339 alleles in male gnomad4 subpopulation. Median coverage is 33. This position pass quality control queck.
BS2
?
High AC in GnomAd at 700 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SCN4B | NM_174934.4 | c.*2785C>T | 3_prime_UTR_variant | 5/5 | ENST00000324727.9 | ||
SCN4B | NM_001142348.2 | c.*2785C>T | 3_prime_UTR_variant | 3/3 | |||
SCN4B | NM_001142349.2 | c.*2785C>T | 3_prime_UTR_variant | 4/4 | |||
SCN4B | NR_024527.2 | n.3461C>T | non_coding_transcript_exon_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCN4B | ENST00000324727.9 | c.*2785C>T | 3_prime_UTR_variant | 5/5 | 1 | NM_174934.4 | P1 | ||
SCN4B | ENST00000415030.6 | n.3615C>T | non_coding_transcript_exon_variant | 4/4 | 1 | ||||
SCN4B | ENST00000423160.2 | n.3106C>T | non_coding_transcript_exon_variant | 3/3 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00460 AC: 700AN: 152220Hom.: 4 Cov.: 33
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GnomAD3 exomes AF: 0.00104 AC: 136AN: 130538Hom.: 1 AF XY: 0.000800 AC XY: 57AN XY: 71232
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GnomAD4 exome AF: 0.000620 AC: 187AN: 301808Hom.: 1 Cov.: 0 AF XY: 0.000395 AC XY: 68AN XY: 172002
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Congenital long QT syndrome Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Illumina Laboratory Services, Illumina | Jun 14, 2016 | - - |
Computational scores
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Name
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BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at