chr16-83990558-A-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_019065.3(NECAB2):āc.524A>Gā(p.Asn175Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000917 in 1,614,036 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 (ā ).
Frequency
Consequence
NM_019065.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NECAB2 | NM_019065.3 | c.524A>G | p.Asn175Ser | missense_variant | 6/13 | ENST00000305202.9 | |
NECAB2 | NM_001329748.1 | c.524A>G | p.Asn175Ser | missense_variant | 6/12 | ||
NECAB2 | NM_001329749.2 | c.275A>G | p.Asn92Ser | missense_variant | 5/12 | ||
NECAB2 | XM_047434240.1 | c.275A>G | p.Asn92Ser | missense_variant | 5/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NECAB2 | ENST00000305202.9 | c.524A>G | p.Asn175Ser | missense_variant | 6/13 | 1 | NM_019065.3 | P1 | |
NECAB2 | ENST00000565691.5 | c.275A>G | p.Asn92Ser | missense_variant | 4/11 | 1 | |||
NECAB2 | ENST00000566836.1 | c.197A>G | p.Asn66Ser | missense_variant | 4/7 | 5 | |||
NECAB2 | ENST00000681513.1 | n.929A>G | non_coding_transcript_exon_variant | 6/13 |
Frequencies
GnomAD3 genomes AF: 0.000355 AC: 54AN: 152144Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000758 AC: 19AN: 250538Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135466
GnomAD4 exome AF: 0.0000643 AC: 94AN: 1461892Hom.: 0 Cov.: 31 AF XY: 0.0000605 AC XY: 44AN XY: 727246
GnomAD4 genome AF: 0.000355 AC: 54AN: 152144Hom.: 0 Cov.: 32 AF XY: 0.000363 AC XY: 27AN XY: 74312
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 28, 2024 | The c.524A>G (p.N175S) alteration is located in exon 6 (coding exon 6) of the NECAB2 gene. This alteration results from a A to G substitution at nucleotide position 524, causing the asparagine (N) at amino acid position 175 to be replaced by a serine (S). 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