rs767833741

Variant names:

• chr18-75210894-T-TGC
• rs767833741
• NM_001308210.2:c.-982_-981insCG

Your query was ambiguous. Multiple possible variants found:

• chr18-75210894-T-TGC
• chr18-75210894-T-TG
• chr18-75210894-T-TGG

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001308210.2(TSHZ1):​c.-982_-981insCG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 24)
• Consequence: TSHZ1 NM_001308210.2 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00

Genes affected

TSHZ1 (HGNC:10669): (teashirt zinc finger homeobox 1) This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
TSHZ1	NM_001308210.2	c.-982_-981insCG		5_prime_UTR_variant	Exon 1 of 2	ENST00000580243.3	NP_001295139.1
TSHZ1	NM_005786.6	c.-444_-443insCG		5_prime_UTR_variant	Exon 1 of 2		NP_005777.3

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
TSHZ1	ENST00000580243	c.-982_-981insCG		5_prime_UTR_variant	Exon 1 of 2	2	NM_001308210.2	ENSP00000464391.1
TSHZ1	ENST00000322038	c.-444_-443insCG		5_prime_UTR_variant	Exon 1 of 2	1		ENSP00000323584.5

Frequencies

GnomAD3 genomes Cov.: 24

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 24

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: rs767833741; hg19: chr18-72922849;