8-23544762-A-G

Position:

• chr8-23544762-A-G

Variant summary

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

The NM_016612.4(SLC25A37):​c.210+15550A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.374 in 152,014 control chromosomes in the GnomAD database, including 12,301 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 (12301 hom., cov: 32)
• Consequence: SLC25A37 NM_016612.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.791

Genes affected

SLC25A37 (HGNC:29786): (solute carrier family 25 member 37) SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.597 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SLC25A37	NM_016612.4	c.210+15550A>G		intron_variant		ENST00000519973.6	NP_057696.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SLC25A37	ENST00000519973.6	c.210+15550A>G		intron_variant		1	NM_016612.4	ENSP00000429200	P1

Frequencies

GnomAD3 genomes AF: 0.374 AC: 56763 AN: 151896 Hom.: 12260 Cov.: 32

Gnomad AFR AF: 0.563

Gnomad AMI AF: 0.242

Gnomad AMR AF: 0.430

Gnomad ASJ AF: 0.259

Gnomad EAS AF: 0.616

Gnomad SAS AF: 0.423

Gnomad FIN AF: 0.277

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.248

Gnomad OTH AF: 0.354

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

GnomAD4 genome AF: 0.374 AC: 56856 AN: 152014 Hom.: 12301 Cov.: 32 AF XY: 0.379 AC XY: 28157 AN XY: 74292

Gnomad4 AFR AF: 0.563

Gnomad4 AMR AF: 0.430

Gnomad4 ASJ AF: 0.259

Gnomad4 EAS AF: 0.614

Gnomad4 SAS AF: 0.423

Gnomad4 FIN AF: 0.277

Gnomad4 NFE AF: 0.248

Gnomad4 OTH AF: 0.355

Alfa AF: 0.240 Hom.: 826

Bravo AF: 0.389

Asia WGS AF: 0.500 AC: 1740 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.47
DANN	Benign	0.47

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: rs7829094; hg19: chr8-23402275;