rs2277912
Variant names:
Your query was ambiguous. Multiple possible variants found:
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001136193.2(FASTKD2):c.778-579T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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
Genomes: not found (cov: 32)
Consequence
FASTKD2
NM_001136193.2 intron
NM_001136193.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -1.13
Genes affected
FASTKD2 (HGNC:29160): (FAST kinase domains 2) This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
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ACMG classification
Classification made for transcript
Verdict is Likely_benign. Variant got -2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FASTKD2 | NM_001136193.2 | c.778-579T>A | intron_variant | Intron 2 of 11 | ENST00000402774.8 | NP_001129665.1 | ||
FASTKD2 | NM_001136194.2 | c.778-579T>A | intron_variant | Intron 2 of 11 | NP_001129666.1 | |||
FASTKD2 | NM_014929.4 | c.778-579T>A | intron_variant | Intron 2 of 11 | NP_055744.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
FASTKD2 | ENST00000402774.8 | c.778-579T>A | intron_variant | Intron 2 of 11 | 1 | NM_001136193.2 | ENSP00000385990.3 | |||
FASTKD2 | ENST00000236980.10 | c.778-579T>A | intron_variant | Intron 2 of 11 | 1 | ENSP00000236980.6 | ||||
FASTKD2 | ENST00000403094.3 | c.778-579T>A | intron_variant | Intron 2 of 11 | 5 | ENSP00000384929.3 | ||||
FASTKD2 | ENST00000487777.5 | n.836-579T>A | intron_variant | Intron 2 of 9 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 genomes
Cov.:
32
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome Cov.: 32
GnomAD4 genome
Cov.:
32
ClinVar
Not reported inComputational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
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