2-27442659-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_173853.4(KRTCAP3):c.109G>T(p.Ala37Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000699 in 1,431,356 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Genomes: not found (cov: 32)
Exomes 𝑓: 7.0e-7 ( 0 hom. )
Consequence
KRTCAP3
NM_173853.4 missense
NM_173853.4 missense
Scores
3
10
6
Clinical Significance
Conservation
PhyloP100: 5.26
Genes affected
Genome browser will be placed here
ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 3 ACMG points.
PM2
?
Very rare variant in population databases, with high coverage;
PP3
?
MetaRNN computational evidence supports a deleterious effect, 0.817
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRTCAP3 | NM_173853.4 | c.109G>T | p.Ala37Ser | missense_variant | 2/7 | ENST00000288873.7 | |
KRTCAP3 | NM_001168364.2 | c.109G>T | p.Ala37Ser | missense_variant | 2/7 | ||
KRTCAP3 | NM_001321325.2 | c.109G>T | p.Ala37Ser | missense_variant | 2/7 | ||
KRTCAP3 | XM_047443704.1 | c.109G>T | p.Ala37Ser | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRTCAP3 | ENST00000288873.7 | c.109G>T | p.Ala37Ser | missense_variant | 2/7 | 1 | NM_173853.4 | P1 | |
KRTCAP3 | ENST00000543753.5 | c.109G>T | p.Ala37Ser | missense_variant | 2/7 | 5 | P1 | ||
KRTCAP3 | ENST00000407293.5 | c.55G>T | p.Ala19Ser | missense_variant | 1/6 | 2 | |||
KRTCAP3 | ENST00000453171.5 | c.29-183G>T | intron_variant, NMD_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 genomes
?
Cov.:
32
GnomAD4 exome AF: 6.99e-7 AC: 1AN: 1431356Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 709138
GnomAD4 exome
AF:
AC:
1
AN:
1431356
Hom.:
Cov.:
33
AF XY:
AC XY:
0
AN XY:
709138
Gnomad4 AFR exome
AF:
Gnomad4 AMR exome
AF:
Gnomad4 ASJ exome
AF:
Gnomad4 EAS exome
AF:
Gnomad4 SAS exome
AF:
Gnomad4 FIN exome
AF:
Gnomad4 NFE exome
AF:
Gnomad4 OTH exome
AF:
GnomAD4 genome ? Cov.: 32
GnomAD4 genome
?
Cov.:
32
Bravo
AF:
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 12, 2023 | The c.109G>T (p.A37S) alteration is located in exon 2 (coding exon 2) of the KRTCAP3 gene. This alteration results from a G to T substitution at nucleotide position 109, causing the alanine (A) at amino acid position 37 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
AlphaMissense
Benign
BayesDel_addAF
Uncertain
T
BayesDel_noAF
Benign
Cadd
Pathogenic
Dann
Uncertain
DEOGEN2
Benign
T;T;.
Eigen
Uncertain
Eigen_PC
Uncertain
FATHMM_MKL
Uncertain
D
LIST_S2
Benign
T;.;T
M_CAP
Uncertain
D
MetaRNN
Pathogenic
D;D;D
MetaSVM
Benign
T
MutationAssessor
Uncertain
M;M;.
MutationTaster
Benign
D;D;D
PrimateAI
Pathogenic
D
PROVEAN
Uncertain
D;D;D
REVEL
Uncertain
Sift
Uncertain
D;D;D
Sift4G
Pathogenic
D;D;D
Polyphen
D;D;.
Vest4
MutPred
Gain of catalytic residue at L33 (P = 0.1408);Gain of catalytic residue at L33 (P = 0.1408);.;
MVP
MPC
ClinPred
D
GERP RS
RBP_binding_hub_radar
RBP_regulation_power_radar
Varity_R
gMVP
Splicing
Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at