6-142088277-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002511.4(NMBR):c.382G>A(p.Gly128Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000186 in 1,613,592 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 12/21 in silico tools predict a damaging outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002511.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NMBR | NM_002511.4 | c.382G>A | p.Gly128Arg | missense_variant | 2/4 | ENST00000258042.2 | |
NMBR | NM_001324307.2 | c.-22-9374G>A | intron_variant | ||||
NMBR | NM_001324308.2 | c.-22-9374G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NMBR | ENST00000258042.2 | c.382G>A | p.Gly128Arg | missense_variant | 2/4 | 1 | NM_002511.4 | P1 | |
NMBR-AS1 | ENST00000454401.1 | n.45C>T | non_coding_transcript_exon_variant | 1/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000439 AC: 11AN: 250554Hom.: 0 AF XY: 0.0000369 AC XY: 5AN XY: 135462
GnomAD4 exome AF: 0.0000198 AC: 29AN: 1461434Hom.: 0 Cov.: 31 AF XY: 0.0000206 AC XY: 15AN XY: 727024
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152158Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 17, 2023 | The c.382G>A (p.G128R) alteration is located in exon 1 (coding exon 1) of the NMBR gene. This alteration results from a G to A substitution at nucleotide position 382, causing the glycine (G) at amino acid position 128 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at