11-122850068-A-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_019604.4(CRTAM):āc.47A>Cā(p.Glu16Ala) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00144 in 1,602,386 control chromosomes in the GnomAD database, including 32 homozygotes. In-silico tool predicts a benign outcome for this variant. 17/22 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (ā ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_019604.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRTAM | NM_019604.4 | c.47A>C | p.Glu16Ala | missense_variant, splice_region_variant | 2/10 | ENST00000227348.9 | NP_062550.2 | |
CRTAM | XM_011542900.3 | c.47A>C | p.Glu16Ala | missense_variant, splice_region_variant | 2/9 | XP_011541202.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CRTAM | ENST00000227348.9 | c.47A>C | p.Glu16Ala | missense_variant, splice_region_variant | 2/10 | 1 | NM_019604.4 | ENSP00000227348 | P1 | |
ENST00000649590.1 | n.73+1477T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.00790 AC: 1202AN: 152164Hom.: 18 Cov.: 32
GnomAD3 exomes AF: 0.00222 AC: 553AN: 249384Hom.: 11 AF XY: 0.00168 AC XY: 227AN XY: 134794
GnomAD4 exome AF: 0.000759 AC: 1100AN: 1450104Hom.: 14 Cov.: 31 AF XY: 0.000661 AC XY: 476AN XY: 720056
GnomAD4 genome AF: 0.00793 AC: 1208AN: 152282Hom.: 18 Cov.: 32 AF XY: 0.00773 AC XY: 576AN XY: 74478
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Jun 29, 2018 | - - |
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at