Variant 11-74492211-T-A details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2

The NM_001144869.3(LIPT2):c.620A>T(p.Glu207Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00332 in 1,551,686 control chromosomes in the GnomAD database, including 69 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).

Frequency

Genomes: 𝑓 0.0032 ( 3 hom., cov: 32)

Exomes 𝑓: 0.0033 ( 66 hom. )

Consequence

LIPT2
NM_001144869.3 missense

Scores

Clinical Significance

Benign criteria provided, multiple submitters, no conflicts B:2

Conservation

PhyloP100: 7.60

Variant links:

Genes affected

LIPT2 (HGNC:37216): (lipoyl(octanoyl) transferase 2) This gene encodes a mitochondrial protein that catalyzes the transfer of octanoic acid to lipoate-dependent enzymes such as octanoyl-ACP. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

LIPT2 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -20 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=0.008795619).

BP6

Variant 11-74492211-T-A is Benign according to our data. Variant chr11-74492211-T-A is described in ClinVar as [Benign]. Clinvar id is 1670614.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.

BS1

Variant frequency is greater than expected in population sas. gnomad4 allele frequency = 0.00322 (490/152264) while in subpopulation SAS AF= 0.0247 (119/4826). AF 95% confidence interval is 0.0211. There are 3 homozygotes in gnomad4. There are 298 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.

BS2

High Homozygotes in GnomAd4 at 3 AR gene

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
LIPT2	NM_001144869.3 link	c.620A>T	p.Glu207Val	missense_variant	2/2	ENST00000310109.5	NP_001138341.1	A6NK58
LIPT2	NM_001329941.2 link	c.*34A>T		3_prime_UTR_variant	2/2		NP_001316870.1
LIPT2	NM_001329942.2 link	c.*34A>T		3_prime_UTR_variant	2/2		NP_001316871.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
LIPT2	ENST00000310109.5 link	c.620A>T	p.Glu207Val	missense_variant	2/2	2	NM_001144869.3	ENSP00000309463.4		A6NK58
LIPT2	ENST00000527115 link	c.*34A>T		3_prime_UTR_variant	2/2	2		ENSP00000431210.1		H0YC96

Frequencies

GnomAD3 genomes

AF:

0.00322

AC:

490

AN:

152146

Hom.:

Cov.:

show subpopulations

Gnomad AFR

AF:

0.000362

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.00955

Gnomad ASJ

AF:

0.0104

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.0242

Gnomad FIN

AF:

0.000377

Gnomad MID

AF:

0.0158

Gnomad NFE

AF:

0.00226

Gnomad OTH

AF:

0.00622

GnomAD3 exomes

AF:

0.00626

AC:

980

AN:

156638

Hom.:

AF XY:

0.00754

AC XY:

626

AN XY:

83014

show subpopulations

Gnomad AFR exome

AF:

0.000126

Gnomad AMR exome

AF:

0.00474

Gnomad ASJ exome

AF:

0.0122

Gnomad EAS exome

AF:

0.0000917

Gnomad SAS exome

AF:

0.0244

Gnomad FIN exome

AF:

0.000237

Gnomad NFE exome

AF:

0.00261

Gnomad OTH exome

AF:

0.00887

GnomAD4 exome

AF:

0.00333

AC:

4657

AN:

1399422

Hom.:

Cov.:

AF XY:

0.00401

AC XY:

2771

AN XY:

690220

show subpopulations

Gnomad4 AFR exome

AF:

0.000411

Gnomad4 AMR exome

AF:

0.00406

Gnomad4 ASJ exome

AF:

0.0149

Gnomad4 EAS exome

AF:

0.0000560

Gnomad4 SAS exome

AF:

0.0253

Gnomad4 FIN exome

AF:

0.000284

Gnomad4 NFE exome

AF:

0.00157

Gnomad4 OTH exome

AF:

0.00521

GnomAD4 genome

AF:

0.00322

AC:

490

AN:

152264

Hom.:

Cov.:

AF XY:

0.00400

AC XY:

298

AN XY:

74458

show subpopulations

Gnomad4 AFR

AF:

0.000361

Gnomad4 AMR

AF:

0.00954

Gnomad4 ASJ

AF:

0.0104

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.0247

Gnomad4 FIN

AF:

0.000377

Gnomad4 NFE

AF:

0.00225

Gnomad4 OTH

AF:

0.00568

Alfa

AF:

0.00326

Hom.:

Bravo

AF:

0.00334

TwinsUK

AF:

0.000539

AC:

ALSPAC

AF:

0.000259

AC:

ESP6500AA

AF:

0.00

AC:

ESP6500EA

AF:

0.00251

AC:

ExAC

AF:

0.00961

AC:

247

Asia WGS

AF:

0.00895

AC:

AN:

3478

ClinVar

Significance: Benign

Submissions summary: Benign:2

Revision: criteria provided, multiple submitters, no conflicts

LINK: link

Submissions by phenotype

not provided

Benign:2

Benign, criteria provided, single submitter	not provided	Breakthrough Genomics, Breakthrough Genomics	-	- -
Benign, criteria provided, single submitter	clinical testing	Labcorp Genetics (formerly Invitae), Labcorp	Jan 25, 2024	- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Uncertain

0.45

BayesDel_addAF

Benign

0.0017

BayesDel_noAF

Pathogenic

0.25

CADD

Pathogenic

DANN

Uncertain

0.99

DEOGEN2

Benign

0.15

Eigen

Uncertain

0.58

Eigen_PC

Uncertain

0.59

FATHMM_MKL

Uncertain

0.97

LIST_S2

Benign

0.84

MetaRNN

Benign

0.0088

MetaSVM

Uncertain

0.72

MutationAssessor

Pathogenic

3.0

PrimateAI

Benign

0.34

PROVEAN

Pathogenic

-5.5

REVEL

Pathogenic

0.85

Sift

Benign

0.033

Sift4G

Uncertain

0.034

Polyphen

0.95

Vest4

0.35

MVP

0.48

ClinPred

0.097

GERP RS

5.3

Varity_R

0.42

gMVP

0.94

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.020

Details are displayed if max score is > 0.2

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

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

ACMG classification

Transcripts

RefSeq

Ensembl

Frequencies

ClinVar

Submissions by phenotype

Computational scores

Splicing

Publications

LitVar

Other links and lift over