rs751935179
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4BP6
The NM_001164507.2(NEB):āc.6400A>Gā(p.Asn2134Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000174 in 1,613,484 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001164507.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NEB | NM_001164507.2 | c.6400A>G | p.Asn2134Asp | missense_variant | 49/182 | ENST00000427231.7 | |
NEB | NM_001164508.2 | c.6400A>G | p.Asn2134Asp | missense_variant | 49/182 | ENST00000397345.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NEB | ENST00000397345.8 | c.6400A>G | p.Asn2134Asp | missense_variant | 49/182 | 5 | NM_001164508.2 | P5 | |
NEB | ENST00000427231.7 | c.6400A>G | p.Asn2134Asp | missense_variant | 49/182 | 5 | NM_001164507.2 | A2 | |
NEB | ENST00000409198.5 | c.6400A>G | p.Asn2134Asp | missense_variant | 49/150 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000395 AC: 6AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000161 AC: 4AN: 248612Hom.: 0 AF XY: 0.0000223 AC XY: 3AN XY: 134830
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461404Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 10AN XY: 726980
GnomAD4 genome ? AF: 0.0000395 AC: 6AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74264
ClinVar
Submissions by phenotype
Nemaline myopathy 2 Uncertain:1Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Uncertain significance, no assertion criteria provided | clinical testing | Natera, Inc. | Nov 11, 2019 | - - |
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Jan 03, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at