14-93246298-TAAAAA-TAAAAAAAA

Variant names:

• chr14-93246298-T-TAAA
• NM_001002860.4:c.2122-15_2122-13dupTTT

Variant summary

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

The NM_001002860.4(BTBD7):​c.2122-15_2122-13dupTTT 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)
  • Exomes 𝑓: 0.0000050 (0 hom.)
• Consequence: BTBD7 NM_001002860.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.796

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

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
BTBD7	NM_001002860.4	c.2122-15_2122-13dupTTT		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_2122-12insTTT		intron_variant	Intron 9 of 10	1	NM_001002860.4	ENSP00000335615.5
BTBD7	ENST00000554565.5	c.1069-13_1069-12insTTT		intron_variant	Intron 7 of 8	1		ENSP00000451010.1
BTBD7	ENST00000553975.1	c.967-13_967-12insTTT		intron_variant	Intron 5 of 6	2		ENSP00000450778.1
BTBD7	ENST00000355125.3	n.*743-13_*743-12insTTT		intron_variant	Intron 6 of 7	2		ENSP00000347246.3

Frequencies

GnomAD3 genomes Cov.: 0

GnomAD4 exome AF: 0.00000497 AC: 6 AN: 1207994 Hom.: 0 Cov.: 0 AF XY: 0.00000512 AC XY: 3 AN XY: 586106

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00000621

Gnomad4 OTH exome AF: 0.00

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

No publications associated with this variant yet.

Other links and lift over

hg19: chr14-93712644;