rs387906423

Positions:

• chrM-8617-A-AT

Variant summary

Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2 PP5

Variant has been reported in ClinVar as Pathogenic (no stars).

• Frequency: Mitomap GenBank: Absent
• Consequence: ATP6 frameshift
• Clinical Significance: Pathogenic no assertion criteria provided P:1 NARP/cognitive-decline+abnormal-brain-MRI+impaired-kidney-function
• Conservation: PhyloP100: 0.809

Genes affected

ATP6 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 3 ACMG points.

• PM2: No frequency data in Mitomap. Probably very rare.
• PP5: Variant M-8617-A-AT is Pathogenic according to our data. Variant chrM-8617-A-AT is described in ClinVar as [Pathogenic]. Clinvar id is 9648.Status of the report is no_assertion_criteria_provided, 0 stars.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
ATP6	unassigned_transcript_4806	c.92dupT	p.Thr33fs	frameshift_variant	1/1
ATP8	unassigned_transcript_4805	c.*45_*46insT		downstream_gene_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD4 exome Cov.: 0

We have no GnomAD4 genomes data on this position. Probably position not covered by the project.

Mitomap

NARP/cognitive-decline+abnormal-brain-MRI+impaired-kidney-function

ClinVar

Significance: Pathogenic

Submissions summary: Pathogenic:1

Revision: no assertion criteria provided

Submissions by phenotype

NARP syndrome Pathogenic:1

Pathogenic, no assertion criteria provided

literature only

OMIM

Jan 01, 2009

- -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs387906423; hg19: chrM-8618;