rs111033357

Positions:

• chrM-1391-T-C

Variant summary

Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP6_Moderate BS2

Variant has been reported in ClinVar as Benign (★).

• Frequency: Mitomap GenBank: 𝑓 0.0021 (AC: 128)
• Consequence: RNR1 non_coding_transcript_exon
• Clinical Significance: Benign criteria provided, single submitter B:1 found-in-1-HCM-patient
• Conservation: PhyloP100: 2.17

Genes affected

RNR1 (HGNC:):

ACMG classification

Verdict is Likely_benign. Variant got -6 ACMG points.

• BP6: Variant M-1391-T-C is Benign according to our data. Variant chrM-1391-T-C is described in ClinVar as [Benign]. Clinvar id is 42216.Status of the report is criteria_provided_single_submitter, 1 stars.
• BS2: High AC in GnomadMitoHomoplasmic at 78

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
RNR1	unassigned_transcript_4786	n.744T>C		non_coding_transcript_exon_variant	1/1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD4 exome Cov.: 0

We have no GnomAD4 genomes data on this position. Probably position not covered by the project.

Mitomap GenBank AF: 0.0021 AC: 128

Gnomad homoplasmic AF: 0.0014 AC: 78 AN: 56427

Gnomad heteroplasmic AF: 0.000018 AC: 1 AN: 56427

Mitomap

found-in-1-HCM-patient

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not specified Benign:1

Benign, criteria provided, single submitter

clinical testing

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Jun 20, 2017

m.1391T>C in MT-RNR1: This variant is not expected to have clinical significance because it has been identified at high frequency in several populations as repo rted in MITOMAP, including 97.6% (40/41) of haplogroup R1a, and 100% (36/36) of haplogroup Q1c (MITOMAP; https://www.mitomap.org/MITOMAP) . -

Computational scores

Source: dbNSFP v4.3

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs111033357; hg19: chrM-1393;