16-79594712-G-GA

Position:

• chr16-79594712-G-GA

Variant summary

Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_Moderate BA1

The NM_005360.5(MAF):​c.1119-160_1119-159insT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.351 in 1,273,678 control chromosomes in the GnomAD database, including 48,997 homozygotes. Variant has been reported in ClinVar as Benign (★).

• Frequency:
  • Genomes: 𝑓 0.33 (8418 hom., cov: 0)
  • Exomes 𝑓: 0.35 (40579 hom.)
• Consequence: MAF NM_005360.5 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: 0.442

Genes affected

MAF (HGNC:6776): (MAF bZIP transcription factor) The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 16-79594712-G-GA is Benign according to our data. Variant chr16-79594712-G-GA is described in ClinVar as [Benign]. Clinvar id is 1280411.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.406 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
MAF	NM_005360.5	c.1119-160_1119-159insT		intron_variant		ENST00000326043.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
MAF	ENST00000326043.5	c.1119-160_1119-159insT		intron_variant		1	NM_005360.5	A2
MAF	ENST00000393350.1	c.*4068_*4069insT		3_prime_UTR_variant	1/1			A2
MAF	ENST00000569649.1	c.1118+4072_1118+4073insT		intron_variant		5		P4

Frequencies

GnomAD3 genomes AF: 0.335 AC: 49049 AN: 146570 Hom.: 8416 Cov.: 0

Gnomad AFR AF: 0.237

Gnomad AMI AF: 0.300

Gnomad AMR AF: 0.350

Gnomad ASJ AF: 0.388

Gnomad EAS AF: 0.421

Gnomad SAS AF: 0.323

Gnomad FIN AF: 0.405

Gnomad MID AF: 0.385

Gnomad NFE AF: 0.372

Gnomad OTH AF: 0.339

GnomAD4 exome AF: 0.353 AC: 397544 AN: 1127032 Hom.: 40579 Cov.: 31 AF XY: 0.352 AC XY: 192818 AN XY: 547368

Gnomad4 AFR exome AF: 0.238

Gnomad4 AMR exome AF: 0.310

Gnomad4 ASJ exome AF: 0.371

Gnomad4 EAS exome AF: 0.384

Gnomad4 SAS exome AF: 0.319

Gnomad4 FIN exome AF: 0.348

Gnomad4 NFE exome AF: 0.357

Gnomad4 OTH exome AF: 0.348

GnomAD4 genome AF: 0.335 AC: 49062 AN: 146646 Hom.: 8418 Cov.: 0 AF XY: 0.339 AC XY: 24143 AN XY: 71230

Gnomad4 AFR AF: 0.237

Gnomad4 AMR AF: 0.349

Gnomad4 ASJ AF: 0.388

Gnomad4 EAS AF: 0.421

Gnomad4 SAS AF: 0.324

Gnomad4 FIN AF: 0.405

Gnomad4 NFE AF: 0.372

Gnomad4 OTH AF: 0.342

ClinVar

Significance: Benign

Submissions summary: Benign:1

Revision: criteria provided, single submitter

Submissions by phenotype

not provided Benign:1

Benign, criteria provided, single submitter

clinical testing

GeneDx

Aug 15, 2019

- -

Computational scores

Source: dbNSFP v4.3

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: rs36052284; hg19: chr16-79628609;