rs2853515

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

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

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 v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.18

Other links and lift over

dbSNP: rs2853515; hg19: -;