chr4-37430654-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP2
The NM_001144990.2(NWD2):c.440C>T(p.Ala147Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000522 in 1,551,316 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A147T) has been classified as Uncertain significance.
Frequency
Consequence
NM_001144990.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NWD2 | NM_001144990.2 | c.440C>T | p.Ala147Val | missense_variant | 4/7 | ENST00000309447.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NWD2 | ENST00000309447.6 | c.440C>T | p.Ala147Val | missense_variant | 4/7 | 5 | NM_001144990.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000197 AC: 3AN: 152080Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000255 AC: 4AN: 156704Hom.: 0 AF XY: 0.0000241 AC XY: 2AN XY: 82968
GnomAD4 exome AF: 0.0000557 AC: 78AN: 1399236Hom.: 0 Cov.: 31 AF XY: 0.0000565 AC XY: 39AN XY: 690128
GnomAD4 genome ? AF: 0.0000197 AC: 3AN: 152080Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74278
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.440C>T (p.A147V) alteration is located in exon 4 (coding exon 4) of the NWD2 gene. This alteration results from a C to T substitution at nucleotide position 440, causing the alanine (A) at amino acid position 147 to be replaced by a valine (V). 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