rs10536745

chr12-56100939-CAAAAAAAAAAAAAAAA-Cchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAchr12-56100939-CAAAAAAAAAAAAAAAA-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Variant summary

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

The NM_001982.4(ERBB3):c.3202-112_3202-97del 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: ERBB3 NM_001982.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.59

Genes affected

ERBB3 (HGNC:3431): (erb-b2 receptor tyrosine kinase 3) This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase domain. It therefore can bind this ligand but not convey the signal into the cell through protein phosphorylation. However, it does form heterodimers with other EGF receptor family members which do have kinase activity. Heterodimerization leads to the activation of pathways which lead to cell proliferation or differentiation. Amplification of this gene and/or overexpression of its protein have been reported in numerous cancers, including prostate, bladder, and breast tumors. Alternate transcriptional splice variants encoding different isoforms have been characterized. One isoform lacks the intermembrane region and is secreted outside the cell. This form acts to modulate the activity of the membrane-bound form. Additional splice variants have also been reported, but they have not been thoroughly characterized. [provided by RefSeq, Jul 2008]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
ERBB3	NM_001982.4	c.3202-112_3202-97del		intron_variant		ENST00000267101.8
ERBB3	XM_047428500.1	c.3025-112_3025-97del		intron_variant
ERBB3	XM_047428501.1	c.3025-112_3025-97del		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
ERBB3	ENST00000267101.8	c.3202-112_3202-97del		intron_variant		1	NM_001982.4	P1

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: rs10536745; hg19: chr12-56494723;