rs2279014

Positions:

• chr2-218396453-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_000578.4(SLC11A1):​c.*1418C>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.368 in 152,336 control chromosomes in the GnomAD database, including 10,459 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 0.37 (10449 hom., cov: 34)
  • Exomes 𝑓: 0.38 (10 hom.)
• Consequence: SLC11A1 NM_000578.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.898

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]

CTDSP1 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.407 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC11A1	NM_000578.4	c.*1418C>T		3_prime_UTR_variant	15/15	ENST00000233202.11	NP_000569.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC11A1	ENST00000233202.11	c.*1418C>T		3_prime_UTR_variant	15/15	1	NM_000578.4	ENSP00000233202	P1

Frequencies

GnomAD3 genomes AF: 0.368 AC: 55912 AN: 152040 Hom.: 10440 Cov.: 34

Gnomad AFR AF: 0.412

Gnomad AMI AF: 0.243

Gnomad AMR AF: 0.380

Gnomad ASJ AF: 0.322

Gnomad EAS AF: 0.264

Gnomad SAS AF: 0.268

Gnomad FIN AF: 0.334

Gnomad MID AF: 0.373

Gnomad NFE AF: 0.362

Gnomad OTH AF: 0.366

GnomAD4 exome AF: 0.376 AC: 67 AN: 178 Hom.: 10 Cov.: 0 AF XY: 0.373 AC XY: 44 AN XY: 118

Gnomad4 AFR exome AF: 0.00

Gnomad4 EAS exome AF: 0.377

Gnomad4 NFE exome AF: 0.386

Gnomad4 OTH exome AF: 0.500

GnomAD4 genome AF: 0.368 AC: 55961 AN: 152158 Hom.: 10449 Cov.: 34 AF XY: 0.365 AC XY: 27181 AN XY: 74390

Gnomad4 AFR AF: 0.412

Gnomad4 AMR AF: 0.381

Gnomad4 ASJ AF: 0.322

Gnomad4 EAS AF: 0.265

Gnomad4 SAS AF: 0.268

Gnomad4 FIN AF: 0.334

Gnomad4 NFE AF: 0.362

Gnomad4 OTH AF: 0.368

Alfa AF: 0.360 Hom.: 12948

Bravo AF: 0.376

Asia WGS AF: 0.284 AC: 989 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	4.3
DANN	Benign	0.82

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

Other links and lift over

dbSNP: rs2279014; hg19: chr2-219261176; COSMIC: COSV51919151; COSMIC: COSV51919151;