chr16-83990552-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_019065.3(NECAB2):c.518C>A(p.Thr173Lys) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000205 in 1,461,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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. T173M) has been classified as Uncertain significance.
Frequency
Consequence
NM_019065.3 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 |
---|---|---|---|---|---|---|---|
NECAB2 | NM_019065.3 | c.518C>A | p.Thr173Lys | missense_variant | 6/13 | ENST00000305202.9 | |
NECAB2 | NM_001329748.1 | c.518C>A | p.Thr173Lys | missense_variant | 6/12 | ||
NECAB2 | NM_001329749.2 | c.269C>A | p.Thr90Lys | missense_variant | 5/12 | ||
NECAB2 | XM_047434240.1 | c.269C>A | p.Thr90Lys | missense_variant | 5/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NECAB2 | ENST00000305202.9 | c.518C>A | p.Thr173Lys | missense_variant | 6/13 | 1 | NM_019065.3 | P1 | |
NECAB2 | ENST00000565691.5 | c.269C>A | p.Thr90Lys | missense_variant | 4/11 | 1 | |||
NECAB2 | ENST00000566836.1 | c.191C>A | p.Thr64Lys | missense_variant | 4/7 | 5 | |||
NECAB2 | ENST00000681513.1 | n.923C>A | non_coding_transcript_exon_variant | 6/13 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250512Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135458
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727242
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 03, 2024 | The c.518C>A (p.T173K) alteration is located in exon 6 (coding exon 6) of the NECAB2 gene. This alteration results from a C to A substitution at nucleotide position 518, causing the threonine (T) at amino acid position 173 to be replaced by a lysine (K). 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