4-99943207-G-A

Variant names:

• chr4-99943207-G-A
• rs10014424
• NM_001031723.4:c.133+3232C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_001031723.4(DNAJB14):​c.133+3232C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0648 in 152,138 control chromosomes in the GnomAD database, including 463 homozygotes. 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: 𝑓 0.065 (463 hom., cov: 32)
• Consequence: DNAJB14 NM_001031723.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.134
• Publications: 1 publications found

Genes affected

DNAJB14 (HGNC:25881): (DnaJ heat shock protein family (Hsp40) member B14) Enables Hsp70 protein binding activity. Involved in cellular protein-containing complex assembly and chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.233 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_001031723.4. 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
	DNAJB14	NM_001031723.4	MANE Select	c.133+3232C>T		intron	N/A	NP_001026893.1
	DNAJB14	NM_001278310.2		c.104+3232C>T		intron	N/A	NP_001265239.1
	DNAJB14	NM_001278311.2		c.133+3232C>T		intron	N/A	NP_001265240.1

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	DNAJB14	ENST00000442697.7	TSL:1 MANE Select	c.133+3232C>T		intron	N/A	ENSP00000404381.2
	DNAJB14	ENST00000334223.6	TSL:1	n.133+3232C>T		intron	N/A	ENSP00000335249.2
	DNAJB14	ENST00000610281.1	TSL:5	c.133+3232C>T		intron	N/A	ENSP00000480565.1

Frequencies

GnomAD3 genomes AF: 0.0649 AC: 9869 AN: 152020 Hom.: 463 Cov.: 32

Gnomad AFR AF: 0.0466

Gnomad AMI AF: 0.0637

Gnomad AMR AF: 0.0899

Gnomad ASJ AF: 0.0464

Gnomad EAS AF: 0.245

Gnomad SAS AF: 0.0876

Gnomad FIN AF: 0.115

Gnomad MID AF: 0.0538

Gnomad NFE AF: 0.0483

Gnomad OTH AF: 0.0647

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.0648 AC: 9866 AN: 152138 Hom.: 463 Cov.: 32 AF XY: 0.0692 AC XY: 5146 AN XY: 74354

African (AFR) AF: 0.0467 AC: 1939 AN: 41526

American (AMR) AF: 0.0898 AC: 1373 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.0464 AC: 161 AN: 3468

East Asian (EAS) AF: 0.244 AC: 1259 AN: 5160

South Asian (SAS) AF: 0.0870 AC: 420 AN: 4826

European-Finnish (FIN) AF: 0.115 AC: 1219 AN: 10570

Middle Eastern (MID) AF: 0.0612 AC: 18 AN: 294

European-Non Finnish (NFE) AF: 0.0483 AC: 3286 AN: 67978

Other (OTH) AF: 0.0630 AC: 133 AN: 2110

Alfa AF: 0.0563 Hom.: 104

Bravo AF: 0.0643

Asia WGS AF: 0.179 AC: 621 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.6
DANN	Benign	0.39
PhyloP100		-0.13
Mutation Taster		=100/0	polymorphism (auto)

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: rs10014424; hg19: chr4-100864364;