rs1554528225

Variant names:

• chr7-75772173-T-A
• NM_001371938.1:c.4A>T

Your query was ambiguous. Multiple possible variants found:

• chr7-75772173-T-A
• chr7-75772173-T-C

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_001371938.1(CCL26):​c.4A>T​(p.Met2Leu) variant causes a missense 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. 14/20 in silico tools predict 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)
• Consequence: CCL26 NM_001371938.1 missense
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.229

Genes affected

CCL26 (HGNC:10625): (C-C motif chemokine ligand 26) This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. This protein also has antimicrobial activity, displaying an antibacterial effect on S. pneumoniae, S. aureus, Non-typeable H. influenzae, and P. aeruginosa. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2020]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.10339731).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
CCL26	NM_001371938.1	c.4A>T	p.Met2Leu	missense_variant	Exon 1 of 3	ENST00000005180.9	NP_001358867.1
CCL26	NM_001371936.1	c.4A>T	p.Met2Leu	missense_variant	Exon 2 of 4		NP_001358865.1
CCL26	NM_006072.4	c.4A>T	p.Met2Leu	missense_variant	Exon 2 of 4		NP_006063.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
CCL26	ENST00000005180.9	c.4A>T	p.Met2Leu	missense_variant	Exon 1 of 3	1	NM_001371938.1	ENSP00000005180.4
CCL26	ENST00000394905.2	c.4A>T	p.Met2Leu	missense_variant	Exon 2 of 4	1		ENSP00000378365.2

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Cov.: 31

GnomAD4 genome Cov.: 32

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
AlphaMissense	Benign	0.085
BayesDel_addAF	Benign	-0.38	T
BayesDel_noAF	Benign	-0.78
CADD	Benign	8.0
DANN	Benign	0.62
DEOGEN2	Benign	0.28	T;T
Eigen	Benign	-0.78
Eigen_PC	Benign	-0.80
FATHMM_MKL	Benign	0.14	N
LIST_S2	Benign	0.17	.;T
M_CAP	Benign	0.0014	T
MetaRNN	Benign	0.10	T;T
MetaSVM	Benign	-0.95	T
PrimateAI	Benign	0.39	T
PROVEAN	Benign	-0.94	N;N
REVEL	Benign	0.025
Sift	Benign	0.26	T;T
Sift4G	Benign	0.32	T;T
Polyphen		0.0	B;B
Vest4		0.15
MutPred		0.30		Loss of disorder (P = 0.139);Loss of disorder (P = 0.139);
MVP		0.092
MPC		0.021
ClinPred		0.39	T
GERP RS		2.5
Varity_R		0.062
gMVP		0.23

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr7-75401491;