M-195-T-C

Variant names:

• chrM-195-T-C
• rs2857291

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 0.19 (AC: 11580)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar BD-associated-/-melanoma-pts
• Conservation: PhyloP100: 0.263
• Publications: 21 publications found

ACMG classification

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

• BA1: High frequency in mitomap database: 0.1894

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

Mitomap GenBank AF: 0.19 AC: 11580

Gnomad homoplasmic AF: 0.28 AC: 15480 AN: 56074

Gnomad heteroplasmic AF: 0.0024 AC: 135 AN: 56074

Mitomap

Disease(s): BD-associated-/-melanoma-pts

Status: Reported

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.26

Other links and lift over

dbSNP: rs2857291;