rs74794784

Variant names:

• chr15-63327500-GTTTTTT-G
• rs74794784
• NM_001218.5:c.908-273_908-268delAAAAAA

Your query was ambiguous. Multiple possible variants found:

• chr15-63327500-GTTTTTT-G
• chr15-63327500-GTTTTTT-GTTT
• chr15-63327500-GTTTTTT-GTTTT
• chr15-63327500-GTTTTTT-GTTTTT
• chr15-63327500-GTTTTTT-GTTTTTTT
• chr15-63327500-GTTTTTT-GTTTTTTTT
• chr15-63327500-GTTTTTT-GTTTTTTTTT
• chr15-63327500-GTTTTTT-GTTTTTTTTTTTTTTT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

The NM_001218.5(CA12):​c.908-273_908-268delAAAAAA variant causes a intron change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: CA12 NM_001218.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.887

Genes affected

CA12 (HGNC:1371): (carbonic anhydrase 12) Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]

LOC124903506 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CA12	NM_001218.5	c.908-273_908-268delAAAAAA		intron_variant	Intron 9 of 10	ENST00000178638.8	NP_001209.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CA12	ENST00000178638.8	c.908-273_908-268delAAAAAA		intron_variant	Intron 9 of 10	1	NM_001218.5	ENSP00000178638.3
CA12	ENST00000344366.7	c.875-273_875-268delAAAAAA		intron_variant	Intron 8 of 9	1		ENSP00000343088.3
CA12	ENST00000422263.2	c.695-273_695-268delAAAAAA		intron_variant	Intron 7 of 8	2		ENSP00000403028.2
CA12	ENST00000560666.1	n.118-273_118-268delAAAAAA		intron_variant	Intron 1 of 2	3

Frequencies

GnomAD3 genomes Cov.: 0

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

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs74794784; hg19: chr15-63619699;