Variant 5-156951682-G-T details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The ENST00000274532.7(TIMD4):c.509C>A(p.Thr170Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00545 in 1,614,054 control chromosomes in the GnomAD database, including 431 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.029 ( 231 hom., cov: 31)

Exomes 𝑓: 0.0030 ( 200 hom. )

Consequence

TIMD4
ENST00000274532.7 missense

Scores

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: 1.38

Variant links:

Genes affected

TIMD4 (HGNC:25132): (T cell immunoglobulin and mucin domain containing 4) Predicted to enable phosphatidylserine binding activity. Predicted to act upstream of or within apoptotic cell clearance. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

TIMD4 links:

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4

Computational evidence support a benign effect (MetaRNN=0.0022141933).

BP6

Variant 5-156951682-G-T is Benign according to our data. Variant chr5-156951682-G-T is described in ClinVar as [Benign]. Clinvar id is 780591.Status of the report is criteria_provided_single_submitter, 1 stars.

BA1

GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.098 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein
TIMD4	NM_138379.3 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/9	ENST00000274532.7	NP_612388.2
TIMD4	NM_001146726.2 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/8		NP_001140198.1
TIMD4	XM_017010021.2 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/7		XP_016865510.1
TIMD4	XM_011534694.3 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/6		XP_011532996.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TIMD4	ENST00000274532.7 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/9	1	NM_138379.3	ENSP00000274532	P2	Q96H15-1
TIMD4	ENST00000407087.4 linkuse as main transcript	c.509C>A	p.Thr170Lys	missense_variant	3/8	2		ENSP00000385973	A2	Q96H15-2

Frequencies

GnomAD3 genomes

AF:

0.0288

AC:

4380

AN:

152052

Hom.:

231

Cov.:

show subpopulations

Gnomad AFR

AF:

0.100

Gnomad AMI

AF:

0.00

Gnomad AMR

AF:

0.0101

Gnomad ASJ

AF:

0.00

Gnomad EAS

AF:

0.00

Gnomad SAS

AF:

0.000208

Gnomad FIN

AF:

0.00

Gnomad MID

AF:

0.00

Gnomad NFE

AF:

0.000338

Gnomad OTH

AF:

0.0239

GnomAD3 exomes

AF:

0.00756

AC:

1901

AN:

251486

Hom.:

AF XY:

0.00572

AC XY:

777

AN XY:

135918

show subpopulations

Gnomad AFR exome

AF:

0.103

Gnomad AMR exome

AF:

0.00497

Gnomad ASJ exome

AF:

0.00

Gnomad EAS exome

AF:

0.00

Gnomad SAS exome

AF:

0.000163

Gnomad FIN exome

AF:

0.00

Gnomad NFE exome

AF:

0.000246

Gnomad OTH exome

AF:

0.00358

GnomAD4 exome

AF:

0.00301

AC:

4407

AN:

1461886

Hom.:

200

Cov.:

AF XY:

0.00256

AC XY:

1861

AN XY:

727248

show subpopulations

Gnomad4 AFR exome

AF:

0.106

Gnomad4 AMR exome

AF:

0.00593

Gnomad4 ASJ exome

AF:

0.0000383

Gnomad4 EAS exome

AF:

0.00

Gnomad4 SAS exome

AF:

0.000232

Gnomad4 FIN exome

AF:

0.00

Gnomad4 NFE exome

AF:

0.000152

Gnomad4 OTH exome

AF:

0.00652

GnomAD4 genome

AF:

0.0289

AC:

4397

AN:

152168

Hom.:

231

Cov.:

AF XY:

0.0284

AC XY:

2111

AN XY:

74408

show subpopulations

Gnomad4 AFR

AF:

0.101

Gnomad4 AMR

AF:

0.0101

Gnomad4 ASJ

AF:

0.00

Gnomad4 EAS

AF:

0.00

Gnomad4 SAS

AF:

0.000208

Gnomad4 FIN

AF:

0.00

Gnomad4 NFE

AF:

0.000338

Gnomad4 OTH

AF:

0.0237

Alfa

AF:

0.00395

Hom.:

Bravo

AF:

0.0336

ESP6500AA

AF:

0.0969

AC:

427

ESP6500EA

AF:

0.000116

AC:

ExAC

AF:

0.00934

AC:

1134

Asia WGS

AF:

0.00635

AC:

AN:

3478

EpiCase

AF:

0.000109

EpiControl

AF:

0.000296

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

LINK: link

Submissions by phenotype

not provided

Benign:1

Benign, criteria provided, single submitter

clinical testing

Labcorp Genetics (formerly Invitae), Labcorp

Aug 14, 2018

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

AlphaMissense

Benign

0.22

BayesDel_addAF

Benign

-0.57

BayesDel_noAF

Benign

-0.52

CADD

Benign

DANN

Uncertain

0.98

DEOGEN2

Uncertain

0.43

T;.

Eigen

Benign

-0.041

Eigen_PC

Benign

-0.12

FATHMM_MKL

Benign

0.62

LIST_S2

Benign

0.43

T;T

MetaRNN

Benign

0.0022

T;T

MetaSVM

Benign

-1.1

MutationAssessor

Benign

2.0

M;M

MutationTaster

Benign

1.0

N;N

PrimateAI

Benign

0.29

PROVEAN

Uncertain

-3.2

D;D

REVEL

Benign

0.082

Sift

Uncertain

0.0040

D;D

Sift4G

Uncertain

0.0060

D;D

Polyphen

0.97

D;.

Vest4

0.44

MVP

0.31

MPC

0.35

ClinPred

0.036

GERP RS

3.3

Varity_R

0.18

gMVP

0.61

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.0

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