rs3087334

Variant names:

• chr5-69174772-CATTA-C
• rs3087334
• NM_031966.4:c.706-103_706-100delTTAA

Your query was ambiguous. Multiple possible variants found:

• chr5-69174772-CATTA-C
• chr5-69174772-CATTA-CATTAATTA

Variant summary

Our verdict is Uncertain significance. The variant received 0 ACMG points: 0P and 0B.

The NM_031966.4(CCNB1):​c.706-103_706-100delTTAA 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: CCNB1 NM_031966.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.792
• Publications: 0 publications found

Genes affected

CCNB1 (HGNC:1579): (cyclin B1) The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]

ACMG classification

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCNB1	NM_031966.4	c.706-103_706-100delTTAA		intron_variant	Intron 5 of 8	ENST00000256442.10	NP_114172.1
CCNB1	NM_001354844.2	c.706-103_706-100delTTAA		intron_variant	Intron 5 of 7		NP_001341773.1
CCNB1	NM_001354845.2	c.547-103_547-100delTTAA		intron_variant	Intron 4 of 7		NP_001341774.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CCNB1	ENST00000256442.10	c.706-104_706-101delATTA		intron_variant	Intron 5 of 8	1	NM_031966.4	ENSP00000256442.5

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

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.79

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: rs3087334; hg19: chr5-68470599;