NM_001127893.3:c.138C>G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001127893.3(CEACAM19):c.138C>G(p.Asn46Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00085 in 1,551,638 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001127893.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CEACAM19 | NM_001127893.3 | c.138C>G | p.Asn46Lys | missense_variant | Exon 2 of 8 | ENST00000358777.10 | NP_001121365.1 | |
CEACAM19 | NM_020219.5 | c.138C>G | p.Asn46Lys | missense_variant | Exon 2 of 8 | NP_064604.2 | ||
CEACAM19 | NM_001389722.1 | c.138C>G | p.Asn46Lys | missense_variant | Exon 3 of 9 | NP_001376651.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000440 AC: 67AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000383 AC: 79AN: 206066Hom.: 0 AF XY: 0.000386 AC XY: 43AN XY: 111362
GnomAD4 exome AF: 0.000895 AC: 1252AN: 1399330Hom.: 3 Cov.: 31 AF XY: 0.000853 AC XY: 590AN XY: 691700
GnomAD4 genome AF: 0.000440 AC: 67AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.000389 AC XY: 29AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.138C>G (p.N46K) alteration is located in exon 2 (coding exon 2) of the CEACAM19 gene. This alteration results from a C to G substitution at nucleotide position 138, causing the asparagine (N) at amino acid position 46 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