7-91804513-C-T

Variant names:

• chr7-91804513-C-T
• rs6949881
• ENST00000454222.5:n.159+22902G>A

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000454222.5(MTERF1):​n.159+22902G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.354 in 151,880 control chromosomes in the GnomAD database, including 9,807 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.35 (9807 hom., cov: 31)
• Consequence: MTERF1 ENST00000454222.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.895
• Publications: 7 publications found

Genes affected

MTERF1 (HGNC:21463): (mitochondrial transcription termination factor 1) This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.376 is higher than 0.05.

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
MTERF1	ENST00000454222.5	n.159+22902G>A		intron_variant	Intron 3 of 4	5

Frequencies

GnomAD3 genomes AF: 0.354 AC: 53707 AN: 151760 Hom.: 9794 Cov.: 31

Gnomad AFR AF: 0.330

Gnomad AMI AF: 0.231

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.537

Gnomad EAS AF: 0.167

Gnomad SAS AF: 0.389

Gnomad FIN AF: 0.335

Gnomad MID AF: 0.418

Gnomad NFE AF: 0.378

Gnomad OTH AF: 0.389

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

GnomAD4 genome AF: 0.354 AC: 53764 AN: 151880 Hom.: 9807 Cov.: 31 AF XY: 0.351 AC XY: 26058 AN XY: 74242

African (AFR) AF: 0.330 AC: 13671 AN: 41390

American (AMR) AF: 0.335 AC: 5105 AN: 15258

Ashkenazi Jewish (ASJ) AF: 0.537 AC: 1862 AN: 3468

East Asian (EAS) AF: 0.167 AC: 863 AN: 5168

South Asian (SAS) AF: 0.390 AC: 1879 AN: 4812

European-Finnish (FIN) AF: 0.335 AC: 3534 AN: 10548

Middle Eastern (MID) AF: 0.429 AC: 126 AN: 294

European-Non Finnish (NFE) AF: 0.378 AC: 25696 AN: 67924

Other (OTH) AF: 0.388 AC: 817 AN: 2106

Alfa AF: 0.381 Hom.: 21847

Bravo AF: 0.353

Asia WGS AF: 0.303 AC: 1054 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.16
DANN	Benign	0.25
PhyloP100		-0.90

Splicing

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

Other links and lift over

dbSNP: rs6949881; hg19: chr7-91433827;