8-101543289-C-T
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP7
The NM_024915.4(GRHL2):c.69C>T(p.Phe23Phe) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,124 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024915.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
GRHL2 | NM_024915.4 | c.69C>T | p.Phe23Phe | synonymous_variant | Exon 2 of 16 | ENST00000646743.1 | NP_079191.2 | |
GRHL2 | NM_001330593.2 | c.21C>T | p.Phe7Phe | synonymous_variant | Exon 2 of 16 | NP_001317522.1 | ||
GRHL2 | XM_011517306.4 | c.21C>T | p.Phe7Phe | synonymous_variant | Exon 2 of 16 | XP_011515608.1 | ||
GRHL2 | XM_011517307.4 | c.69C>T | p.Phe23Phe | synonymous_variant | Exon 2 of 16 | XP_011515609.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
GRHL2 | ENST00000646743.1 | c.69C>T | p.Phe23Phe | synonymous_variant | Exon 2 of 16 | NM_024915.4 | ENSP00000495564.1 | |||
GRHL2 | ENST00000472106.2 | n.397C>T | non_coding_transcript_exon_variant | Exon 2 of 2 | 1 | |||||
GRHL2 | ENST00000395927.1 | c.21C>T | p.Phe7Phe | synonymous_variant | Exon 2 of 16 | 2 | ENSP00000379260.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152124Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152124Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74314
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at