chr4-56313237-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001393381.1(CRACD):c.395C>T(p.Ser132Phe) variant causes a missense change. The variant allele was found at a frequency of 0.000138 in 1,614,192 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001393381.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CRACD | NM_001393381.1 | c.395C>T | p.Ser132Phe | missense_variant | Exon 7 of 11 | ENST00000682029.1 | NP_001380310.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000854 AC: 13AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000180 AC: 45AN: 249452Hom.: 2 AF XY: 0.000273 AC XY: 37AN XY: 135352
GnomAD4 exome AF: 0.000144 AC: 210AN: 1461872Hom.: 6 Cov.: 31 AF XY: 0.000216 AC XY: 157AN XY: 727240
GnomAD4 genome AF: 0.0000853 AC: 13AN: 152320Hom.: 0 Cov.: 33 AF XY: 0.0000940 AC XY: 7AN XY: 74484
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.395C>T (p.S132F) alteration is located in exon 7 (coding exon 4) of the KIAA1211 gene. This alteration results from a C to T substitution at nucleotide position 395, causing the serine (S) at amino acid position 132 to be replaced by a phenylalanine (F). 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