8-90060698-G-A
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_004929.4(CALB1):c.603C>T(p.Asp201=) variant causes a splice region, synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000176 in 1,610,770 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004929.4 splice_region, synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CALB1 | NM_004929.4 | c.603C>T | p.Asp201= | splice_region_variant, synonymous_variant | 10/11 | ENST00000265431.7 | |
CALB1 | NM_001366795.1 | c.528C>T | p.Asp176= | splice_region_variant, synonymous_variant | 9/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CALB1 | ENST00000265431.7 | c.603C>T | p.Asp201= | splice_region_variant, synonymous_variant | 10/11 | 1 | NM_004929.4 | P1 | |
CALB1 | ENST00000518457.5 | c.432C>T | p.Asp144= | splice_region_variant, synonymous_variant | 9/10 | 2 | |||
CALB1 | ENST00000469032.1 | n.3644C>T | non_coding_transcript_exon_variant | 2/3 | 2 | ||||
CALB1 | ENST00000497376.1 | n.615C>T | non_coding_transcript_exon_variant | 1/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000855 AC: 130AN: 152098Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000215 AC: 54AN: 251206Hom.: 0 AF XY: 0.000162 AC XY: 22AN XY: 135762
GnomAD4 exome AF: 0.000102 AC: 149AN: 1458554Hom.: 0 Cov.: 29 AF XY: 0.0000840 AC XY: 61AN XY: 725770
GnomAD4 genome AF: 0.000880 AC: 134AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.000954 AC XY: 71AN XY: 74422
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | May 21, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at