rs4987382
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000655.5(SELL):āc.1105A>Gā(p.Asn369Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00943 in 1,377,586 control chromosomes in the GnomAD database, including 856 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000655.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SELL | NM_000655.5 | c.1105A>G | p.Asn369Asp | missense_variant | 9/9 | ENST00000236147.6 | |
SELL | NR_029467.2 | n.1074A>G | non_coding_transcript_exon_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SELL | ENST00000236147.6 | c.1105A>G | p.Asn369Asp | missense_variant | 9/9 | 1 | NM_000655.5 | P1 | |
SELL | ENST00000650983.1 | c.1144A>G | p.Asn382Asp | missense_variant | 9/9 | ||||
SELL | ENST00000497295.1 | c.100A>G | p.Asn34Asp | missense_variant | 3/3 | 5 | |||
FIRRM | ENST00000498289.5 | n.851+7866T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0471 AC: 7168AN: 152172Hom.: 532 Cov.: 32
GnomAD3 exomes AF: 0.0126 AC: 1700AN: 135144Hom.: 129 AF XY: 0.00911 AC XY: 675AN XY: 74128
GnomAD4 exome AF: 0.00473 AC: 5800AN: 1225296Hom.: 321 Cov.: 24 AF XY: 0.00430 AC XY: 2584AN XY: 601140
GnomAD4 genome ? AF: 0.0472 AC: 7188AN: 152290Hom.: 535 Cov.: 32 AF XY: 0.0460 AC XY: 3422AN XY: 74466
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at