2-168774325-G-C

Variant names:

• chr2-168774325-G-C
• rs8304
• ENST00000425636.6:n.518C>G

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The ENST00000425636.6(CERS6-AS1):​n.518C>G variant causes a non coding transcript exon 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: CERS6-AS1 ENST00000425636.6 non_coding_transcript_exon
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.279
• Publications: 5 publications found

Genes affected

CERS6-AS1 (HGNC:44485): (CERS6 antisense RNA 1)

CERS6 (HGNC:23826): (ceramide synthase 6) Enables sphingosine N-acyltransferase activity. Involved in ceramide biosynthetic process. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000425636.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CERS6	NM_203463.3	MANE Select	c.*4663G>C		3_prime_UTR	Exon 10 of 10	NP_982288.1
	CERS6-AS1	NR_045786.1		n.611C>G		non_coding_transcript_exon	Exon 4 of 4
	CERS6-AS1	NR_045787.1		n.518C>G		non_coding_transcript_exon	Exon 3 of 3

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CERS6-AS1	ENST00000425636.6	TSL:1	n.518C>G		non_coding_transcript_exon	Exon 3 of 3
	CERS6	ENST00000305747.11	TSL:2 MANE Select	c.*4663G>C		3_prime_UTR	Exon 10 of 10	ENSP00000306579.6
	CERS6	ENST00000392687.4	TSL:1	c.*4663G>C		3_prime_UTR	Exon 11 of 11	ENSP00000376453.4

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	5.9
DANN	Benign	0.29
PhyloP100		0.28

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

Other links and lift over

dbSNP: rs8304; hg19: chr2-169630835;