chr11-73970302-T-A

Variant names:

• chr11-73970302-T-A
• rs2306820
• ENST00000543947.1:c.*41T>A

Variant summary

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

The ENST00000543947.1(DNAJB13):​c.*41T>A 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: DNAJB13 ENST00000543947.1 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.635
• Publications: 18 publications found

Genes affected

DNAJB13 (HGNC:30718): (DnaJ heat shock protein family (Hsp40) member B13) This gene encodes a member of the heat shock protein 40 co-chaperone family which is produced in large amounts in the testis and is located on the radial spokes of the axoneme in human sperm flagella and other flagellar structures. The encoded protein associates with the sperm annulus, as part of the septin complex, through direct interaction with septin 4, during sperm terminal differentiation. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and male infertility. [provided by RefSeq, Apr 2017]

DNAJB13 Gene-Disease associations (from GenCC):

• primary ciliary dyskinesia 34

  Inheritance: AR Classification: STRONG, MODERATE, LIMITED Submitted by: Ambry Genetics, PanelApp Australia, G2P, Labcorp Genetics (formerly Invitae)
• primary ciliary dyskinesia

  Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet

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=-0.86).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
DNAJB13	NM_153614.4	c.*188T>A		downstream_gene_variant		ENST00000339764.6	NP_705842.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
DNAJB13	ENST00000543947.1	c.*41T>A		3_prime_UTR_variant	Exon 6 of 6	1		ENSP00000438576.1
DNAJB13	ENST00000339764.6	c.*188T>A		downstream_gene_variant		1	NM_153614.4	ENSP00000344431.1
DNAJB13	ENST00000542350.5	c.*188T>A		downstream_gene_variant		3		ENSP00000440778.1
DNAJB13	ENST00000537753.5	c.*188T>A		downstream_gene_variant		3		ENSP00000439711.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 524714 Hom.: 0 Cov.: 7 AF XY: 0.00 AC XY: 0 AN XY: 263326

African (AFR) AF: 0.00 AC: 0 AN: 12254

American (AMR) AF: 0.00 AC: 0 AN: 9174

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 12352

East Asian (EAS) AF: 0.00 AC: 0 AN: 24668

South Asian (SAS) AF: 0.00 AC: 0 AN: 26818

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 25292

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 2022

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 385246

Other (OTH) AF: 0.00 AC: 0 AN: 26888

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.86
CADD	Benign	7.0
DANN	Benign	0.52
PhyloP100		0.64

Splicing

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

Other links and lift over

dbSNP: rs2306820; hg19: chr11-73681347;