chr7-142957921-G-A
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_000420.3(KEL):c.578C>T(p.Thr193Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0357 in 1,614,034 control chromosomes in the GnomAD database, including 1,186 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000420.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KEL | NM_000420.3 | c.578C>T | p.Thr193Met | missense_variant | 6/19 | ENST00000355265.7 | |
KEL | XM_005249993.2 | c.614C>T | p.Thr205Met | missense_variant | 6/19 | ||
KEL | XM_047420357.1 | c.578C>T | p.Thr193Met | missense_variant | 6/18 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KEL | ENST00000355265.7 | c.578C>T | p.Thr193Met | missense_variant | 6/19 | 1 | NM_000420.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0261 AC: 3972AN: 152112Hom.: 70 Cov.: 32
GnomAD3 exomes AF: 0.0269 AC: 6762AN: 251390Hom.: 143 AF XY: 0.0278 AC XY: 3774AN XY: 135862
GnomAD4 exome AF: 0.0366 AC: 53573AN: 1461804Hom.: 1116 Cov.: 33 AF XY: 0.0362 AC XY: 26330AN XY: 727214
GnomAD4 genome AF: 0.0261 AC: 3968AN: 152230Hom.: 70 Cov.: 32 AF XY: 0.0241 AC XY: 1791AN XY: 74432
ClinVar
Submissions by phenotype
KELL K/k BLOOD GROUP POLYMORPHISM Benign:1
Benign, no assertion criteria provided | literature only | OMIM | Jun 01, 1996 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at