rs397518454
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 3P and 7B. PM1PP2BP4_ModerateBS1_SupportingBS2
The NM_031157.4(HNRNPA1):āc.956A>Gā(p.Asn319Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,613,820 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_031157.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HNRNPA1 | NM_031157.4 | c.956A>G | p.Asn319Ser | missense_variant | 9/11 | ENST00000340913.11 | |
HNRNPA1 | NM_002136.4 | c.800A>G | p.Asn267Ser | missense_variant | 8/10 | ||
HNRNPA1 | NR_135167.2 | n.882A>G | non_coding_transcript_exon_variant | 8/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HNRNPA1 | ENST00000340913.11 | c.956A>G | p.Asn319Ser | missense_variant | 9/11 | 1 | NM_031157.4 | ||
ENST00000553061.1 | n.545+6685A>G | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000920 AC: 14AN: 152232Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000801 AC: 2AN: 249752Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135460
GnomAD4 exome AF: 0.00000821 AC: 12AN: 1461470Hom.: 0 Cov.: 31 AF XY: 0.00000825 AC XY: 6AN XY: 727014
GnomAD4 genome ? AF: 0.0000919 AC: 14AN: 152350Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74508
ClinVar
Submissions by phenotype
Amyotrophic lateral sclerosis type 20 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 28, 2013 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Jun 24, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at