chr16-83981084-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019065.3(NECAB2):c.416C>A(p.Thr139Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,884 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NECAB2 | NM_019065.3 | c.416C>A | p.Thr139Asn | missense_variant | 5/13 | ENST00000305202.9 | |
NECAB2 | NM_001329748.1 | c.416C>A | p.Thr139Asn | missense_variant | 5/12 | ||
NECAB2 | NM_001329749.2 | c.167C>A | p.Thr56Asn | missense_variant | 4/12 | ||
NECAB2 | XM_047434240.1 | c.167C>A | p.Thr56Asn | missense_variant | 4/12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NECAB2 | ENST00000305202.9 | c.416C>A | p.Thr139Asn | missense_variant | 5/13 | 1 | NM_019065.3 | P1 | |
NECAB2 | ENST00000565691.5 | c.167C>A | p.Thr56Asn | missense_variant | 3/11 | 1 | |||
NECAB2 | ENST00000566836.1 | c.89C>A | p.Thr30Asn | missense_variant | 3/7 | 5 | |||
NECAB2 | ENST00000681513.1 | n.821C>A | non_coding_transcript_exon_variant | 5/13 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461884Hom.: 0 Cov.: 33 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.