14-93246298-TAAAAA-TAAAAAAAAAAAAAAAA

Variant names:

• chr14-93246298-T-TAAAAAAAAAAA
• rs55659625
• NM_001002860.4:c.2122-23_2122-13dupTTTTTTTTTTT

Variant summary

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

The NM_001002860.4(BTBD7):​c.2122-23_2122-13dupTTTTTTTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 0)
• Consequence: BTBD7 NM_001002860.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.796
• Publications: 0 publications found

Genes affected

BTBD7 (HGNC:18269): (BTB domain containing 7) Predicted to be involved in regulation of branching involved in salivary gland morphogenesis. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

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

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001002860.4. 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
	BTBD7	NM_001002860.4	MANE Select	c.2122-23_2122-13dupTTTTTTTTTTT		intron	N/A	NP_001002860.2	Q9P203-1
	BTBD7	NM_001289133.2		c.1069-23_1069-13dupTTTTTTTTTTT		intron	N/A	NP_001276062.1	Q9P203-5

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	BTBD7	ENST00000334746.10	TSL:1 MANE Select	c.2122-13_2122-12insTTTTTTTTTTT		intron	N/A	ENSP00000335615.5	Q9P203-1
	BTBD7	ENST00000554565.5	TSL:1	c.1069-13_1069-12insTTTTTTTTTTT		intron	N/A	ENSP00000451010.1	Q9P203-5
	BTBD7	ENST00000893710.1		c.2122-13_2122-12insTTTTTTTTTTT		intron	N/A	ENSP00000563769.1

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		0.80

Splicing

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

Other links and lift over

dbSNP: rs55659625; hg19: chr14-93712644;