1-6640071-CAAAAAA-CAAAAAAAAAA

Position:

• chr1-6640071-CAAAAAA-CAAAAAAAAAA

Variant summary

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

The NM_018198.4(DNAJC11):​c.1098-18_1098-15dupTTTT 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: 𝑓 0.000036 (0 hom., cov: 0)
  • Exomes 𝑓: 0.00012 (0 hom.)
• Consequence: DNAJC11 NM_018198.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.23

Genes affected

DNAJC11 (HGNC:25570): (DnaJ heat shock protein family (Hsp40) member C11) Involved in cristae formation. Located in mitochondrial outer membrane and nuclear speck. Part of MIB complex. Colocalizes with MICOS complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]

DNAJC11 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
DNAJC11	NM_018198.4	c.1098-18_1098-15dupTTTT		intron_variant		ENST00000377577.10	NP_060668.2
DNAJC11	XM_047424842.1	c.828-18_828-15dupTTTT		intron_variant			XP_047280798.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
DNAJC11	ENST00000377577.10	c.1098-18_1098-15dupTTTT		intron_variant		1	NM_018198.4	ENSP00000366800.5

Frequencies

GnomAD3 genomes AF: 0.0000364 AC: 3 AN: 82518 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.0000500

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000478

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.000121 AC: 137 AN: 1136408 Hom.: 0 Cov.: 0 AF XY: 0.000150 AC XY: 82 AN XY: 548444

Gnomad4 AFR exome AF: 0.000166

Gnomad4 AMR exome AF: 0.000260

Gnomad4 ASJ exome AF: 0.000130

Gnomad4 EAS exome AF: 0.000401

Gnomad4 SAS exome AF: 0.000799

Gnomad4 FIN exome AF: 0.000163

Gnomad4 NFE exome AF: 0.0000741

Gnomad4 OTH exome AF: 0.0000655

GnomAD4 genome AF: 0.0000364 AC: 3 AN: 82518 Hom.: 0 Cov.: 0 AF XY: 0.0000521 AC XY: 2 AN XY: 38372

Gnomad4 AFR AF: 0.0000500

Gnomad4 AMR AF: 0.00

Gnomad4 ASJ AF: 0.00

Gnomad4 EAS AF: 0.00

Gnomad4 SAS AF: 0.00

Gnomad4 FIN AF: 0.00

Gnomad4 NFE AF: 0.0000478

Gnomad4 OTH AF: 0.00

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

LitVar

Other links and lift over

dbSNP: rs56145914; hg19: chr1-6700131;