rs35953031

Positions:

• chr14-88620934-TAAAAA-T
• chr14-88620934-TAAAAA-TA
• chr14-88620934-TAAAAA-TAA
• chr14-88620934-TAAAAA-TAAA
• chr14-88620934-TAAAAA-TAAAA
• chr14-88620934-TAAAAA-TAAAAAA
• chr14-88620934-TAAAAA-TAAAAAAA
• chr14-88620934-TAAAAA-TAAAAAAAA
• chr14-88620934-TAAAAA-TAAAAAAAAA
• chr14-88620934-TAAAAA-TAAAAAAAAAA
• chr14-88620934-TAAAAA-TAAAAAAAAAAAAA

Variant summary

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

The NM_024824.5(ZC3H14):​c.*9196_*9200delAAAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000255 in 1,372,336 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: 𝑓 0.0000072 (0 hom., cov: 0)
  • Exomes 𝑓: 0.000028 (0 hom.)
• Consequence: ZC3H14 NM_024824.5 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.833

Genes affected

ZC3H14 (HGNC:20509): (zinc finger CCCH-type containing 14) The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]

EML5 (HGNC:18197): (EMAP like 5) Predicted to enable microtubule binding activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022]

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/exons	MANE	Protein	UniProt
ZC3H14	NM_024824.5	c.*9196_*9200delAAAAA		3_prime_UTR_variant	17/17	ENST00000251038.10	NP_079100.2
EML5	NM_183387.3	c.5203-13_5203-9delTTTTT		intron_variant		ENST00000554922.6	NP_899243.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
ZC3H14	ENST00000251038.10	c.*9196_*9200delAAAAA		3_prime_UTR_variant	17/17	1	NM_024824.5	ENSP00000251038.5
EML5	ENST00000554922.6	c.5203-13_5203-9delTTTTT		intron_variant		5	NM_183387.3	ENSP00000451998.1

Frequencies

GnomAD3 genomes AF: 0.00000720 AC: 1 AN: 138870 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

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: 0.0000154

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.0000276 AC: 34 AN: 1233466 Hom.: 0 AF XY: 0.0000299 AC XY: 18 AN XY: 601150

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.0000592

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.000207

Gnomad4 FIN exome AF: 0.0000273

Gnomad4 NFE exome AF: 0.0000182

Gnomad4 OTH exome AF: 0.0000391

GnomAD4 genome AF: 0.00000720 AC: 1 AN: 138870 Hom.: 0 Cov.: 0 AF XY: 0.0000150 AC XY: 1 AN XY: 66682

Gnomad4 AFR AF: 0.00

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: 0.0000154

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: rs35953031; hg19: chr14-89087278;