rs3937033

Variant names:

• chrM-16519-T-C
• rs3937033

Your query was ambiguous. Multiple possible variants found:

• chrM-16519-T-C
• chrM-16519-T-G

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 0.62 (AC: 38046)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar No linked disesase in Mitomap
• Conservation: PhyloP100: -0.225
• Publications: 16 publications found

ACMG classification

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

• BA1: High frequency in mitomap database: 0.62229997

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: 0.62 AC: 38046

Gnomad homoplasmic AF: 0.66 AC: 35648 AN: 54238

Gnomad heteroplasmic AF: 0.0015 AC: 83 AN: 54238

Mitomap

No disease associated.

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.23

Other links and lift over

dbSNP: rs3937033; hg19: chrM-16521;