chrM-16278-C-T

Variant names:

• chrM-16278-C-T
• rs41458645

Variant summary

Our verdict is Benign. The variant received -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Mitomap GenBank: 𝑓 0.098 (AC: 5999)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar No linked disesase in Mitomap
• Conservation: PhyloP100: -0.381
• Publications: 10 publications found

ACMG classification

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

• BA1: High frequency in mitomap database: 0.09810001

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: 0.098 AC: 5999

Gnomad homoplasmic AF: 0.20 AC: 10603 AN: 53984

Gnomad heteroplasmic AF: 0.00035 AC: 19 AN: 53984

Mitomap

No disease associated.

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.38

Other links and lift over

dbSNP: rs41458645; hg19: chrM-16280; COSMIC: COSV106108068;