chr14-93246298-T-TAAAAAAAAAAA

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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BTBD7	NM_001002860.4	c.2122-23_2122-13dupTTTTTTTTTTT		intron_variant	Intron 9 of 10	ENST00000334746.10	NP_001002860.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
BTBD7	ENST00000334746.10	c.2122-13_2122-12insTTTTTTTTTTT		intron_variant	Intron 9 of 10	1	NM_001002860.4	ENSP00000335615.5
BTBD7	ENST00000554565.5	c.1069-13_1069-12insTTTTTTTTTTT		intron_variant	Intron 7 of 8	1		ENSP00000451010.1
BTBD7	ENST00000553975.1	c.967-13_967-12insTTTTTTTTTTT		intron_variant	Intron 5 of 6	2		ENSP00000450778.1
BTBD7	ENST00000355125.3	n.*743-13_*743-12insTTTTTTTTTTT		intron_variant	Intron 6 of 7	2		ENSP00000347246.3

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome Cov.: 0

GnomAD4 genome Cov.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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;