rs61729822
Variant summary
Our verdict is Benign. Variant got -15 ACMG points: 0P and 15B. BP4_StrongBP6_ModerateBP7BS1BS2
The NM_031372.4(HNRNPDL):āc.840A>Gā(p.Thr280=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0266 in 1,610,262 control chromosomes in the GnomAD database, including 639 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Synonymous variant affecting the same amino acid position (i.e. T280T) has been classified as Likely benign.
Frequency
Consequence
NM_031372.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -15 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HNRNPDL | NM_031372.4 | c.840A>G | p.Thr280= | synonymous_variant | 4/8 | ENST00000295470.10 | |
HNRNPDL | NM_001207000.1 | c.840A>G | p.Thr280= | synonymous_variant | 4/7 | ||
HNRNPDL | NR_003249.2 | n.1375A>G | non_coding_transcript_exon_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HNRNPDL | ENST00000295470.10 | c.840A>G | p.Thr280= | synonymous_variant | 4/8 | 1 | NM_031372.4 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.0214 AC: 3264AN: 152234Hom.: 53 Cov.: 33
GnomAD3 exomes AF: 0.0213 AC: 5305AN: 248940Hom.: 84 AF XY: 0.0220 AC XY: 2953AN XY: 134488
GnomAD4 exome AF: 0.0271 AC: 39553AN: 1457910Hom.: 586 Cov.: 30 AF XY: 0.0268 AC XY: 19464AN XY: 725204
GnomAD4 genome ? AF: 0.0214 AC: 3264AN: 152352Hom.: 53 Cov.: 33 AF XY: 0.0200 AC XY: 1490AN XY: 74490
ClinVar
Submissions by phenotype
Autosomal dominant limb-girdle muscular dystrophy type 1G Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 31, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at