rs6511018

chr19-19075896-G-Achr19-19075896-G-Cchr19-19075896-G-T

Variant summary

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

The NM_178526.5(SLC25A42):c.-35+11781G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.77 in 152,010 control chromosomes in the GnomAD database, including 45,657 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 0.77 (45657 hom., cov: 31)
• Consequence: SLC25A42 NM_178526.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0870

Genes affected

SLC25A42 (HGNC:28380): (solute carrier family 25 member 42) This gene encodes a solute carrier family 25 protein. Solute carrier family 25 proteins are localized to mitochondria and play critical roles in the transport of molecules across the inner mitochondrial membrane. The encoded protein is a mitochondrial transporter for coenzyme A (CoA) and adenosine 3',5'-diphosphate. [provided by RefSeq, Feb 2012]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.869 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC25A42	NM_178526.5	c.-35+11781G>A		intron_variant		ENST00000318596.8
SLC25A42	NM_001321544.2	c.-35+11850G>A		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC25A42	ENST00000318596.8	c.-35+11781G>A		intron_variant		1	NM_178526.5	P1
SLC25A42	ENST00000597661.5	n.29+11850G>A		intron_variant, non_coding_transcript_variant		3

Frequencies

GnomAD3 genomes AF: 0.770 AC: 117017 AN: 151890 Hom.: 45638 Cov.: 31

Gnomad AFR AF: 0.644

Gnomad AMI AF: 0.936

Gnomad AMR AF: 0.818

Gnomad ASJ AF: 0.830

Gnomad EAS AF: 0.890

Gnomad SAS AF: 0.811

Gnomad FIN AF: 0.765

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.819

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.770 AC: 117080 AN: 152010 Hom.: 45657 Cov.: 31 AF XY: 0.770 AC XY: 57224 AN XY: 74290

Gnomad4 AFR AF: 0.643

Gnomad4 AMR AF: 0.819

Gnomad4 ASJ AF: 0.830

Gnomad4 EAS AF: 0.890

Gnomad4 SAS AF: 0.812

Gnomad4 FIN AF: 0.765

Gnomad4 NFE AF: 0.819

Gnomad4 OTH AF: 0.799

Alfa AF: 0.815 Hom.: 55504

Bravo AF: 0.772

Asia WGS AF: 0.827 AC: 2877 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
Cadd	Benign	2.5
Dann	Benign	0.70

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: rs6511018; hg19: chr19-19186705;