M-263-A-G

Variant names:

• chrM-263-A-G
• rs2853515

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 24 publications found

ACMG classification

Our verdict: Benign. The variant received -8 ACMG points.

• BA1: High frequency in mitomap database: 0.9566

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

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: 0.991 Hom.: 12666

Mitomap

No disease associated.

ClinVar

Significance: not provided

Submissions summary: Other:1

Revision: no classification provided

Submissions by phenotype

not provided Other:1

GenomeConnect, ClinGen

Significance: not provided

Review Status: no classification provided

Collection Method: phenotyping only

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 v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.18

Other links and lift over

dbSNP: rs2853515;