rs12356013

chr10-50361470-G-A

Variant summary

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

The NM_147156.4(SGMS1):c.-231-17125C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0505 in 152,216 control chromosomes in the GnomAD database, including 285 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 0.050 (285 hom., cov: 32)
• Consequence: SGMS1 NM_147156.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0150

Genes affected

SGMS1 (HGNC:29799): (sphingomyelin synthase 1) The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0681 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SGMS1	NM_147156.4	c.-231-17125C>T		intron_variant		ENST00000361781.7

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SGMS1	ENST00000361781.7	c.-231-17125C>T		intron_variant		1	NM_147156.4	P1

Frequencies

GnomAD3 genomes AF: 0.0505 AC: 7684 AN: 152098 Hom.: 285 Cov.: 32

Gnomad AFR AF: 0.0125

Gnomad AMI AF: 0.130

Gnomad AMR AF: 0.0551

Gnomad ASJ AF: 0.0931

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.0344

Gnomad FIN AF: 0.0768

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.0697

Gnomad OTH AF: 0.0683

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

GnomAD4 genome AF: 0.0505 AC: 7683 AN: 152216 Hom.: 285 Cov.: 32 AF XY: 0.0501 AC XY: 3726 AN XY: 74410

Gnomad4 AFR AF: 0.0125

Gnomad4 AMR AF: 0.0549

Gnomad4 ASJ AF: 0.0931

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.0349

Gnomad4 FIN AF: 0.0768

Gnomad4 NFE AF: 0.0697

Gnomad4 OTH AF: 0.0676

Alfa AF: 0.0531 Hom.: 46

Bravo AF: 0.0468

Asia WGS AF: 0.0120 AC: 40 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
Cadd	Benign	2.3
Dann	Benign	0.44

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: rs12356013; hg19: chr10-52121230;