rs7328100

Variant names:

• chr13-49414322-T-A
• rs7328100
• NM_001079670.3:c.-32+18996A>T

Your query was ambiguous. Multiple possible variants found:

• chr13-49414322-T-A
• chr13-49414322-T-C
• chr13-49414322-T-G

Variant summary

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

The NM_001079670.3(CAB39L):​c.-32+18996A>T variant causes a intron 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: CAB39L NM_001079670.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.11
• Publications: 5 publications found

Genes affected

CAB39L (HGNC:20290): (calcium binding protein 39 like) Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytosol. [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=-0.98).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001079670.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CAB39L	NM_001079670.3	MANE Select	c.-32+18996A>T		intron	N/A	NP_001073138.1	Q9H9S4
	CAB39L	NM_001287337.2		c.-169-13052A>T		intron	N/A	NP_001274266.1	Q9H9S4

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	CAB39L	ENST00000409308.6	TSL:1 MANE Select	c.-32+18996A>T		intron	N/A	ENSP00000386375.1	Q9H9S4
	CAB39L	ENST00000410043.5	TSL:1	c.-169-13052A>T		intron	N/A	ENSP00000386328.1	Q9H9S4
	CAB39L	ENST00000856912.1		c.-32+18996A>T		intron	N/A	ENSP00000526971.1

Frequencies

GnomAD3 genomes Cov.: 32

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

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.43
DANN	Benign	0.23
PhyloP100		-1.1

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs7328100; hg19: chr13-49988458;