rs1043681

Variant names:

• chr1-6635063-C-G
• rs1043681
• NM_018198.4:c.*612G>C

Your query was ambiguous. Multiple possible variants found:

• chr1-6635063-C-G
• chr1-6635063-C-T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_018198.4(DNAJC11):​c.*612G>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: DNAJC11 NM_018198.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.148
• Publications: 8 publications found

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]

THAP3 (HGNC:20855): (THAP domain containing 3) Predicted to enable DNA binding activity and metal ion binding activity. Involved in positive regulation of transcription by RNA polymerase II. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_018198.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DNAJC11	NM_018198.4	MANE Select	c.*612G>C		3_prime_UTR	Exon 16 of 16	NP_060668.2
	THAP3	NM_138350.4		c.*975C>G		3_prime_UTR	Exon 5 of 5	NP_612359.2
	THAP3	NM_001394497.1		c.*975C>G		3_prime_UTR	Exon 5 of 5	NP_001381426.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DNAJC11	ENST00000377577.10	TSL:1 MANE Select	c.*612G>C		3_prime_UTR	Exon 16 of 16	ENSP00000366800.5
	DNAJC11	ENST00000451196.5	TSL:1	c.741-279G>C		intron	N/A	ENSP00000415871.1
	DNAJC11	ENST00000954225.1		c.*612G>C		3_prime_UTR	Exon 16 of 16	ENSP00000624284.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 79980 Hom.: 0 Cov.: 4 AF XY: 0.00 AC XY: 0 AN XY: 41130

African (AFR) AF: 0.00 AC: 0 AN: 3700

American (AMR) AF: 0.00 AC: 0 AN: 4878

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 1502

East Asian (EAS) AF: 0.00 AC: 0 AN: 4700

South Asian (SAS) AF: 0.00 AC: 0 AN: 8372

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 2400

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 204

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 50710

Other (OTH) AF: 0.00 AC: 0 AN: 3514

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	5.9
DANN	Benign	0.63
PhyloP100		-0.15
RBP_binding_hub_radar		0.0
RBP_regulation_power_radar		1.0

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Other links and lift over

dbSNP: rs1043681; hg19: chr1-6695123;