1-155048093-C-T

Variant names:

• chr1-155048093-C-T
• rs373745947
• NM_152494.4:c.1792C>T

Variant summary

Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2 BP4_Strong BP7

The NM_152494.4(DCST1):​c.1792C>T​(p.Leu598Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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: not found (cov: 32)
• Consequence: DCST1 NM_152494.4 synonymous
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.375

Genes affected

DCST1 (HGNC:26539): (DC-STAMP domain containing 1) This gene encodes a protein with a domain similar to one found in dendritic cells (PMID:11169400) which play a key role in antigen processing and display for immune responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

DCST1-AS1 (HGNC:41147): (DCST1 antisense RNA 1)

ACMG classification

Verdict is Likely_benign. Variant got -3 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BP7: Synonymous conserved (PhyloP=0.375 with no splicing effect.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DCST1	NM_152494.4	c.1792C>T	p.Leu598Leu	synonymous_variant	Exon 16 of 17	ENST00000295542.6	NP_689707.2
DCST1	NM_001143687.2	c.1717C>T	p.Leu573Leu	synonymous_variant	Exon 15 of 16		NP_001137159.1
DCST1-AS1	NR_040772.1	n.652+1176G>A		intron_variant	Intron 2 of 3
DCST1-AS1	NR_040773.1	n.328+1176G>A		intron_variant	Intron 2 of 3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DCST1	ENST00000295542.6	c.1792C>T	p.Leu598Leu	synonymous_variant	Exon 16 of 17	2	NM_152494.4	ENSP00000295542.2
DCST1	ENST00000525273.5	n.*144C>T		non_coding_transcript_exon_variant	Exon 15 of 15	2		ENSP00000433667.1
DCST1	ENST00000525273.5	n.*144C>T		3_prime_UTR_variant	Exon 15 of 15	2		ENSP00000433667.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 32

GnomAD4 genome Cov.: 32

Alfa AF: 0.0000282 Hom.: 0

Bravo AF: 0.00000378

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
CADD	Benign	7.7
DANN	Benign	0.74

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: rs373745947; hg19: chr1-155020569; COSMIC: COSV55060807; COSMIC: COSV55060807;