chr17-29576092-C-T
Variant summary
Our verdict is Benign. Variant got -7 ACMG points: 1P and 8B. PP2BP4_StrongBS2
The NM_014030.4(GIT1):c.1651G>A(p.Ala551Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,613,620 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014030.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -7 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
GIT1 | NM_014030.4 | c.1651G>A | p.Ala551Thr | missense_variant | 15/20 | ENST00000225394.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
GIT1 | ENST00000225394.8 | c.1651G>A | p.Ala551Thr | missense_variant | 15/20 | 1 | NM_014030.4 | A1 | |
ABHD15-AS1 | ENST00000581474.1 | n.153+15393C>T | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000177 AC: 27AN: 152164Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251232Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135834
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461456Hom.: 0 Cov.: 33 AF XY: 0.0000138 AC XY: 10AN XY: 727020
GnomAD4 genome AF: 0.000177 AC: 27AN: 152164Hom.: 0 Cov.: 33 AF XY: 0.000161 AC XY: 12AN XY: 74340
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at