rs2853515

chrM-263-A-G

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

Variant has been reported in ClinVar as not provided (no stars).

• Frequency: Mitomap GenBank: 𝑓 0.96 (AC: 58480)
• Consequence: Unknown
• Clinical Significance: not provided no classification provided O:1 No linked disesase in Mitomap
• Conservation: PhyloP100: 0.178

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: High frequency in mitomap database: 0.9566

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

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

Frequencies

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

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

Mitomap GenBank AF: 0.96 AC: 58480

Gnomad homoplasmic AF: 0.99 AC: 55895 AN: 56420

Gnomad heteroplasmic AF: 0.00019 AC: 11 AN: 56420

Alfa AF: 0.972 Hom.: 281

Mitomap

No disease associated.

ClinVar

Significance: not provided

Submissions summary: Other:1

Revision: no classification provided

Submissions by phenotype

not provided Other:1

not provided, no classification provided

phenotyping only

GenomeConnect, ClinGen

-

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. -

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: rs2853515; hg19: -;