Variant chr2-218384290-C-T details in Genebe, Genetics Data Aggregator

Variant summary

Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_ModerateBP7BA1

The NM_000578.4(SLC11A1):c.198C>T(p.Phe66=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.255 in 1,607,394 control chromosomes in the GnomAD database, including 54,268 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as risk factor (no stars).

Frequency

Genomes: 𝑓 0.23 ( 4358 hom., cov: 32)

Exomes 𝑓: 0.26 ( 49910 hom. )

Consequence

SLC11A1
NM_000578.4 synonymous

Scores

Clinical Significance

risk factor no assertion criteria provided O:1

Conservation

PhyloP100: 0.710

Variant links:

Genes affected

SLC11A1 (HGNC:10907): (solute carrier family 11 member 1) This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

SLC11A1 links:

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -11 ACMG points.

BP4

Computational evidence support a benign effect (BayesDel_noAF=-0.27).

BP7

Synonymous conserved (PhyloP=0.71 with no splicing effect.

BA1

GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.281 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC11A1	NM_000578.4 linkuse as main transcript	c.198C>T	p.Phe66=	synonymous_variant	3/15	ENST00000233202.11	NP_000569.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC11A1	ENST00000233202.11 linkuse as main transcript	c.198C>T	p.Phe66=	synonymous_variant	3/15	1	NM_000578.4	ENSP00000233202	P1	P49279-1

Frequencies

GnomAD3 genomes

AF:

0.232

AC:

35352

AN:

152094

Hom.:

4355

Cov.:

show subpopulations

Gnomad AFR

AF:

0.178

Gnomad AMI

AF:

0.199

Gnomad AMR

AF:

0.288

Gnomad ASJ

AF:

0.251

Gnomad EAS

AF:

0.120

Gnomad SAS

AF:

0.121

Gnomad FIN

AF:

0.246

Gnomad MID

AF:

0.297

Gnomad NFE

AF:

0.266

Gnomad OTH

AF:

0.253

GnomAD3 exomes

AF:

0.235

AC:

58512

AN:

249308

Hom.:

7446

AF XY:

0.231

AC XY:

31090

AN XY:

134800

show subpopulations

Gnomad AFR exome

AF:

0.169

Gnomad AMR exome

AF:

0.304

Gnomad ASJ exome

AF:

0.244

Gnomad EAS exome

AF:

0.114

Gnomad SAS exome

AF:

0.121

Gnomad FIN exome

AF:

0.254

Gnomad NFE exome

AF:

0.267

Gnomad OTH exome

AF:

0.266

GnomAD4 exome

AF:

0.257

AC:

374160

AN:

1455182

Hom.:

49910

Cov.:

AF XY:

0.253

AC XY:

183007

AN XY:

723982

show subpopulations

Gnomad4 AFR exome

AF:

0.169

Gnomad4 AMR exome

AF:

0.306

Gnomad4 ASJ exome

AF:

0.245

Gnomad4 EAS exome

AF:

0.128

Gnomad4 SAS exome

AF:

0.122

Gnomad4 FIN exome

AF:

0.250

Gnomad4 NFE exome

AF:

0.274

Gnomad4 OTH exome

AF:

0.243

GnomAD4 genome

AF:

0.232

AC:

35376

AN:

152212

Hom.:

4358

Cov.:

AF XY:

0.231

AC XY:

17163

AN XY:

74402

show subpopulations

Gnomad4 AFR

AF:

0.178

Gnomad4 AMR

AF:

0.289

Gnomad4 ASJ

AF:

0.251

Gnomad4 EAS

AF:

0.121

Gnomad4 SAS

AF:

0.121

Gnomad4 FIN

AF:

0.246

Gnomad4 NFE

AF:

0.266

Gnomad4 OTH

AF:

0.253

Alfa

AF:

0.262

Hom.:

10721

Bravo

AF:

0.237

Asia WGS

AF:

0.123

AC:

427

AN:

3478

ClinVar

Significance: risk factor

Submissions summary: Other:1

Revision: no assertion criteria provided

LINK: link

Submissions by phenotype

Mycobacterium tuberculosis, susceptibility to infection by

Other:1

risk factor, no assertion criteria provided

literature only

OMIM

Aug 23, 2005

- -

Computational scores

Source: dbNSFP v4.3

Name

Calibrated prediction

Score

Prediction

BayesDel_noAF

Benign

-0.27

CADD

Benign

DANN

Benign

0.87

Splicing

Name

Calibrated prediction

Score

Prediction

SpliceAI score (max)

0.040

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