rs73936843
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001127893.3(CEACAM19):c.56-26C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0122 in 1,459,940 control chromosomes in the GnomAD database, including 823 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. There are indicators that this mutation may affect the branch point..
Frequency
Consequence
NM_001127893.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CEACAM19 | NM_001127893.3 | c.56-26C>T | intron_variant | ENST00000358777.10 | |||
CEACAM19 | NM_001389722.1 | c.56-26C>T | intron_variant | ||||
CEACAM19 | NM_020219.5 | c.56-26C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CEACAM19 | ENST00000358777.10 | c.56-26C>T | intron_variant | 1 | NM_001127893.3 | A2 | |||
CEACAM16-AS1 | ENST00000662585.1 | n.475+26514G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0430 AC: 6543AN: 152086Hom.: 355 Cov.: 32
GnomAD3 exomes AF: 0.0228 AC: 3330AN: 146092Hom.: 174 AF XY: 0.0193 AC XY: 1499AN XY: 77646
GnomAD4 exome AF: 0.00864 AC: 11301AN: 1307736Hom.: 468 Cov.: 30 AF XY: 0.00908 AC XY: 5779AN XY: 636306
GnomAD4 genome ? AF: 0.0431 AC: 6555AN: 152204Hom.: 355 Cov.: 32 AF XY: 0.0435 AC XY: 3239AN XY: 74424
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at