6-118204536-C-T

Variant summary

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

The NM_001029858.4(SLC35F1):c.350-30973C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.722 in 152,012 control chromosomes in the GnomAD database, including 40,569 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 0.72 (40569 hom., cov: 31)
• Consequence: SLC35F1 NM_001029858.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.07

Genes affected

SLC35F1 (HGNC:21483): (solute carrier family 35 member F1) Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.846 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC35F1	NM_001029858.4	c.350-30973C>T		intron_variant		ENST00000360388.9
SLC35F1	NM_001415931.1	c.350-30973C>T		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC35F1	ENST00000360388.9	c.350-30973C>T		intron_variant		1	NM_001029858.4	A2
SLC35F1	ENST00000621341.1	c.173-30973C>T		intron_variant		5		P2

Frequencies

GnomAD3 genomes AF: 0.722 AC: 109724 AN: 151894 Hom.: 40525 Cov.: 31

Gnomad AFR AF: 0.854

Gnomad AMI AF: 0.876

Gnomad AMR AF: 0.600

Gnomad ASJ AF: 0.761

Gnomad EAS AF: 0.454

Gnomad SAS AF: 0.754

Gnomad FIN AF: 0.618

Gnomad MID AF: 0.731

Gnomad NFE AF: 0.700

Gnomad OTH AF: 0.727

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

GnomAD4 genome AF: 0.722 AC: 109815 AN: 152012 Hom.: 40569 Cov.: 31 AF XY: 0.717 AC XY: 53248 AN XY: 74272

Gnomad4 AFR AF: 0.854

Gnomad4 AMR AF: 0.599

Gnomad4 ASJ AF: 0.761

Gnomad4 EAS AF: 0.454

Gnomad4 SAS AF: 0.755

Gnomad4 FIN AF: 0.618

Gnomad4 NFE AF: 0.700

Gnomad4 OTH AF: 0.722

Alfa AF: 0.702 Hom.: 47996

Bravo AF: 0.723

Asia WGS AF: 0.605 AC: 2104 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
Cadd	Benign	0.52
Dann	Benign	0.69

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: rs205924; hg19: chr6-118525699; COSMIC: COSV64508668;