chr5-79695550-A-G

Position:

• chr5-79695550-A-G

Variant summary

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

The NM_153610.5(CMYA5):​c.149+5494A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.434 in 152,058 control chromosomes in the GnomAD database, including 16,381 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 0.43 (16381 hom., cov: 32)
• Consequence: CMYA5 NM_153610.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.272

Genes affected

CMYA5 (HGNC:14305): (cardiomyopathy associated 5) Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of calcineurin-NFAT signaling cascade; negative regulation of phosphoprotein phosphatase activity; and regulation of skeletal muscle adaptation. Located in cytosol; nuclear speck; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.68 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
CMYA5	NM_153610.5	c.149+5494A>G		intron_variant		ENST00000446378.3
CMYA5	XM_047416911.1	c.149+5494A>G		intron_variant
CMYA5	XR_001742036.3	n.221+5494A>G		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
CMYA5	ENST00000446378.3	c.149+5494A>G		intron_variant		5	NM_153610.5	P1

Frequencies

GnomAD3 genomes AF: 0.434 AC: 65954 AN: 151940 Hom.: 16327 Cov.: 32

Gnomad AFR AF: 0.687

Gnomad AMI AF: 0.425

Gnomad AMR AF: 0.462

Gnomad ASJ AF: 0.265

Gnomad EAS AF: 0.281

Gnomad SAS AF: 0.377

Gnomad FIN AF: 0.352

Gnomad MID AF: 0.228

Gnomad NFE AF: 0.313

Gnomad OTH AF: 0.393

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

GnomAD4 genome AF: 0.434 AC: 66069 AN: 152058 Hom.: 16381 Cov.: 32 AF XY: 0.435 AC XY: 32364 AN XY: 74320

Gnomad4 AFR AF: 0.687

Gnomad4 AMR AF: 0.463

Gnomad4 ASJ AF: 0.265

Gnomad4 EAS AF: 0.281

Gnomad4 SAS AF: 0.378

Gnomad4 FIN AF: 0.352

Gnomad4 NFE AF: 0.313

Gnomad4 OTH AF: 0.390

Alfa AF: 0.269 Hom.: 1052

Bravo AF: 0.455

Asia WGS AF: 0.383 AC: 1334 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	11
DANN	Benign	0.82

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

LitVar

Other links and lift over

dbSNP: rs6883197; hg19: chr5-78991373;