X-136308838-T-C
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_153834.4(ADGRG4):c.61T>C(p.Phe21Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000914 in 985,074 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 7 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_153834.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ADGRG4 | ENST00000394143.6 | c.61T>C | p.Phe21Leu | missense_variant | Exon 4 of 26 | 1 | NM_153834.4 | ENSP00000377699.1 | ||
ADGRG4 | ENST00000394141.1 | c.61T>C | p.Phe21Leu | missense_variant | Exon 2 of 23 | 1 | ENSP00000377697.1 | |||
ADGRG4 | ENST00000370652.5 | c.61T>C | p.Phe21Leu | missense_variant | Exon 2 of 24 | 5 | ENSP00000359686.1 |
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.0000111 AC: 2AN: 180655Hom.: 0 AF XY: 0.0000306 AC XY: 2AN XY: 65403
GnomAD4 exome AF: 0.00000914 AC: 9AN: 985074Hom.: 0 Cov.: 20 AF XY: 0.0000245 AC XY: 7AN XY: 285408
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.61T>C (p.F21L) alteration is located in exon 4 (coding exon 1) of the ADGRG4 gene. This alteration results from a T to C substitution at nucleotide position 61, causing the phenylalanine (F) at amino acid position 21 to be replaced by a leucine (L). 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