rs369797804

Variant names:

• chr10-21612326-CTTTTT-C
• NM_001195626.3:c.406-14_406-10delTTTTT

Your query was ambiguous. Multiple possible variants found:

• chr10-21612326-CTTTTT-C
• chr10-21612326-CTTTTT-CT
• chr10-21612326-CTTTTT-CTT
• chr10-21612326-CTTTTT-CTTT
• chr10-21612326-CTTTTT-CTTTT
• chr10-21612326-CTTTTT-CTTTTTT
• chr10-21612326-CTTTTT-CTTTTTTT
• chr10-21612326-CTTTTT-CTTTTTTTT

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_001195626.3(MLLT10):​c.406-14_406-10delTTTTT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000091 in 1,098,986 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 30)
  • Exomes 𝑓: 9.1e-7 (0 hom.)
• Consequence: MLLT10 NM_001195626.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 3.05

Genes affected

MLLT10 (HGNC:16063): (MLLT10 histone lysine methyltransferase DOT1L cofactor) This gene encodes a transcription factor and has been identified as a partner gene involved in several chromosomal rearrangements resulting in various leukemias. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
MLLT10	NM_001195626.3	c.406-14_406-10delTTTTT		intron_variant	Intron 5 of 22	ENST00000307729.12	NP_001182555.1
MLLT10	NM_004641.4	c.406-14_406-10delTTTTT		intron_variant	Intron 5 of 23		NP_004632.1
MLLT10	NM_001324297.2	c.-466-14_-466-10delTTTTT		intron_variant	Intron 6 of 24		NP_001311226.1
MLLT10	NR_136736.2	n.873-14_873-10delTTTTT		intron_variant	Intron 6 of 25

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
MLLT10	ENST00000307729.12	c.406-14_406-10delTTTTT		intron_variant	Intron 5 of 22	1	NM_001195626.3	ENSP00000307411.7

Frequencies

GnomAD3 genomes Cov.: 30

GnomAD4 exome AF: 9.10e-7 AC: 1 AN: 1098986 Hom.: 0 AF XY: 0.00 AC XY: 0 AN XY: 552700

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: 0.00000120

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 30

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: chr10-21901255;