rs2115436

Positions:

• chr5-78396793-T-A
• chr5-78396793-T-C
• chr5-78396793-T-G

Variant summary

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

The NM_004866.6(SCAMP1):​c.135+7879T>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.759 in 152,138 control chromosomes in the GnomAD database, including 44,435 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 0.76 (44435 hom., cov: 32)
• Consequence: SCAMP1 NM_004866.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.264

Genes affected

SCAMP1 (HGNC:10563): (secretory carrier membrane protein 1) This gene product belongs to the SCAMP family of proteins, which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that these protein family members may function at the same site during vesicular transport rather than in separate pathways. A pseudogene of this gene has been defined on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.64).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.829 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
SCAMP1	NM_004866.6	c.135+7879T>A		intron_variant		ENST00000621999.5	NP_004857.4
SCAMP1	NM_001290229.2	c.58-18727T>A		intron_variant			NP_001277158.1
SCAMP1	XM_011543727.4	c.135+7879T>A		intron_variant			XP_011542029.1
SCAMP1	NR_110885.2	n.190+7879T>A		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
SCAMP1	ENST00000621999.5	c.135+7879T>A		intron_variant		1	NM_004866.6	ENSP00000481022	P1

Frequencies

GnomAD3 genomes AF: 0.759 AC: 115402 AN: 152020 Hom.: 44399 Cov.: 32

Gnomad AFR AF: 0.836

Gnomad AMI AF: 0.635

Gnomad AMR AF: 0.599

Gnomad ASJ AF: 0.732

Gnomad EAS AF: 0.625

Gnomad SAS AF: 0.765

Gnomad FIN AF: 0.755

Gnomad MID AF: 0.761

Gnomad NFE AF: 0.761

Gnomad OTH AF: 0.762

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

GnomAD4 genome AF: 0.759 AC: 115487 AN: 152138 Hom.: 44435 Cov.: 32 AF XY: 0.755 AC XY: 56152 AN XY: 74370

Gnomad4 AFR AF: 0.836

Gnomad4 AMR AF: 0.598

Gnomad4 ASJ AF: 0.732

Gnomad4 EAS AF: 0.624

Gnomad4 SAS AF: 0.766

Gnomad4 FIN AF: 0.755

Gnomad4 NFE AF: 0.761

Gnomad4 OTH AF: 0.763

Alfa AF: 0.758 Hom.: 5488

Bravo AF: 0.748

Asia WGS AF: 0.666 AC: 2319 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.64
CADD	Benign	14
DANN	Benign	0.94

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: rs2115436; hg19: chr5-77692617;