rs4835511

Variant names:

• chr4-144016195-C-A
• rs4835511
• NM_002100.6:c.37+3056G>T

Your query was ambiguous. Multiple possible variants found:

• chr4-144016195-C-A
• chr4-144016195-C-T

Variant summary

Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong

The NM_002100.6(GYPB):​c.37+3056G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. 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 0.0000076 (0 hom., cov: 27)
  • Failed GnomAD Quality Control
• Consequence: GYPB NM_002100.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.312
• Publications: 1 publications found

Genes affected

GYPB (HGNC:4703): (glycophorin B (MNS blood group)) Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons and has 97% sequence homology with GYPA from the 5' UTR to the coding sequence encoding the first 45 amino acids. In addition to the M or N and S or s antigens, that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta; also, Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

GUSBP5 (HGNC:):

ACMG classification

Our verdict: Likely_benign. The variant received -4 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
GYPB	NM_002100.6	c.37+3056G>T		intron_variant	Intron 1 of 4	ENST00000502664.6	NP_002091.4
GYPB	NM_001304382.1	c.-42+607G>T		intron_variant	Intron 2 of 5		NP_001291311.1
GYPB	XM_011531903.3	c.37+3056G>T		intron_variant	Intron 1 of 4		XP_011530205.1
GYPB	XM_011531904.4	c.-115+3056G>T		intron_variant	Intron 1 of 5		XP_011530206.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
GYPB	ENST00000502664.6	c.37+3056G>T		intron_variant	Intron 1 of 4	1	NM_002100.6	ENSP00000427690.1
GYPB	ENST00000504951.6	n.37+3056G>T		intron_variant	Intron 1 of 6	1		ENSP00000421974.2

Frequencies

GnomAD3 genomes AF: 0.00000763 AC: 1 AN: 131100 Hom.: 0 Cov.: 27

Gnomad AFR AF: 0.0000289

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.00

Gnomad OTH AF: 0.00

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000763 AC: 1 AN: 131100 Hom.: 0 Cov.: 27 AF XY: 0.0000160 AC XY: 1 AN XY: 62338

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5.

African (AFR) AF: 0.0000289 AC: 1 AN: 34562

American (AMR) AF: 0.00 AC: 0 AN: 12372

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3304

East Asian (EAS) AF: 0.00 AC: 0 AN: 4288

South Asian (SAS) AF: 0.00 AC: 0 AN: 3790

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 6604

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 218

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 63268

Other (OTH) AF: 0.00 AC: 0 AN: 1834

⚠️ The allele balance in gnomAD version 4 Genomes is significantly skewed from the expected value of 0.5. (p-value = 0.000000), which strongly suggests a high chance of mosaicism in these individuals.

Alfa AF: 0.00 Hom.: 106

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	0.37
DANN	Benign	0.43
PhyloP100		-0.31

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

Other links and lift over

dbSNP: rs4835511; hg19: chr4-144937348;