rs80088139

Positions:

• chr22-48527647-C-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000402357.6(TAFA5):​c.112+37943C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0183 in 152,318 control chromosomes in the GnomAD database, including 134 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 0.018 (134 hom., cov: 34)
• Consequence: TAFA5 ENST00000402357.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.858

Genes affected

TAFA5 (HGNC:21592): (TAFA chemokine like family member 5) This gene is a member of the TAFA family which is composed of five highly homologous genes that encode small secreted proteins. These proteins contain conserved cysteine residues at fixed positions, and are distantly related to MIP-1alpha, a member of the CC-chemokine family. The TAFA proteins are predominantly expressed in specific regions of the brain, and are postulated to function as brain-specific chemokines or neurokines that act as regulators of immune and nervous cells. [provided by RefSeq, Sep 2013]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.176 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
TAFA5	NM_001082967.3	c.112+37943C>G		intron_variant		ENST00000402357.6	NP_001076436.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
TAFA5	ENST00000402357.6	c.112+37943C>G		intron_variant		1	NM_001082967.3	ENSP00000383933	P4
TAFA5	ENST00000336769.9	c.112+37943C>G		intron_variant		4		ENSP00000336812

Frequencies

GnomAD3 genomes AF: 0.0183 AC: 2786 AN: 152198 Hom.: 133 Cov.: 34

Gnomad AFR AF: 0.00439

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.0370

Gnomad ASJ AF: 0.00836

Gnomad EAS AF: 0.185

Gnomad SAS AF: 0.00911

Gnomad FIN AF: 0.0110

Gnomad MID AF: 0.00316

Gnomad NFE AF: 0.0125

Gnomad OTH AF: 0.0191

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

GnomAD4 genome AF: 0.0183 AC: 2792 AN: 152318 Hom.: 134 Cov.: 34 AF XY: 0.0191 AC XY: 1423 AN XY: 74474

Gnomad4 AFR AF: 0.00438

Gnomad4 AMR AF: 0.0373

Gnomad4 ASJ AF: 0.00836

Gnomad4 EAS AF: 0.186

Gnomad4 SAS AF: 0.00891

Gnomad4 FIN AF: 0.0110

Gnomad4 NFE AF: 0.0125

Gnomad4 OTH AF: 0.0194

Alfa AF: 0.0140 Hom.: 2

Bravo AF: 0.0235

Asia WGS AF: 0.0730 AC: 255 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	1.9
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs80088139; hg19: chr22-48923459;