rs11216831

Positions:

• chr11-118246303-G-A
• chr11-118246303-G-T

Variant summary

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

The NM_198275.3(MPZL3):​c.73+5919C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0449 in 152,214 control chromosomes in the GnomAD database, including 238 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 0.045 (238 hom., cov: 32)
• Consequence: MPZL3 NM_198275.3 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.458

Genes affected

MPZL3 (HGNC:27279): (myelin protein zero like 3) Predicted to be involved in cell adhesion. Predicted to act upstream of or within extracellular matrix organization and hair cycle. Predicted to be integral component of membrane. Predicted to be active in 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=-0.83).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0666 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
MPZL3	NM_198275.3	c.73+5919C>T		intron_variant		ENST00000278949.9	NP_938016.1
MPZL3	NM_001286152.2	c.73+5919C>T		intron_variant			NP_001273081.1
MPZL3	NR_104404.2	n.144+5919C>T		intron_variant, non_coding_transcript_variant
MPZL3	NR_104405.2	n.144+5919C>T		intron_variant, non_coding_transcript_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
MPZL3	ENST00000278949.9	c.73+5919C>T		intron_variant		1	NM_198275.3	ENSP00000278949	P1
MPZL3	ENST00000525386.5	c.73+5919C>T		intron_variant		1		ENSP00000434636
MPZL3	ENST00000527472.1	c.73+5919C>T		intron_variant		1		ENSP00000432106
MPZL3	ENST00000446386.2	c.73+5919C>T		intron_variant, NMD_transcript_variant		2		ENSP00000393594

Frequencies

GnomAD3 genomes AF: 0.0449 AC: 6830 AN: 152096 Hom.: 238 Cov.: 32

Gnomad AFR AF: 0.0135

Gnomad AMI AF: 0.00548

Gnomad AMR AF: 0.0301

Gnomad ASJ AF: 0.0340

Gnomad EAS AF: 0.000193

Gnomad SAS AF: 0.0371

Gnomad FIN AF: 0.0710

Gnomad MID AF: 0.0506

Gnomad NFE AF: 0.0683

Gnomad OTH AF: 0.0460

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

GnomAD4 genome AF: 0.0449 AC: 6828 AN: 152214 Hom.: 238 Cov.: 32 AF XY: 0.0438 AC XY: 3263 AN XY: 74414

Gnomad4 AFR AF: 0.0135

Gnomad4 AMR AF: 0.0301

Gnomad4 ASJ AF: 0.0340

Gnomad4 EAS AF: 0.000193

Gnomad4 SAS AF: 0.0369

Gnomad4 FIN AF: 0.0710

Gnomad4 NFE AF: 0.0683

Gnomad4 OTH AF: 0.0455

Alfa AF: 0.0545 Hom.: 140

Bravo AF: 0.0418

Asia WGS AF: 0.0120 AC: 42 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.83
CADD	Benign	1.3
DANN	Benign	0.84

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: rs11216831; hg19: chr11-118117018;