rs1338924875
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019065.3(NECAB2):c.73C>G(p.Arg25Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000693 in 144,362 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_019065.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NECAB2 | NM_019065.3 | c.73C>G | p.Arg25Gly | missense_variant | Exon 1 of 13 | ENST00000305202.9 | NP_061938.2 | |
NECAB2 | NM_001329748.1 | c.73C>G | p.Arg25Gly | missense_variant | Exon 1 of 12 | NP_001316677.1 | ||
NECAB2 | NM_001329749.2 | c.-151C>G | 5_prime_UTR_variant | Exon 1 of 12 | NP_001316678.1 | |||
NECAB2 | XM_047434240.1 | c.-22-3430C>G | intron_variant | Intron 1 of 11 | XP_047290196.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000693 AC: 1AN: 144362Hom.: 0 Cov.: 30
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000693 AC: 1AN: 144362Hom.: 0 Cov.: 30 AF XY: 0.0000142 AC XY: 1AN XY: 70202
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.73C>G (p.R25G) alteration is located in exon 1 (coding exon 1) of the NECAB2 gene. This alteration results from a C to G substitution at nucleotide position 73, causing the arginine (R) at amino acid position 25 to be replaced by a glycine (G). 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