chr2-241853266-GT-G

Position:

• chr2-241853266-GT-G

Variant summary

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

The NM_005018.3(PDCD1):​c.77-287delA variant causes a intron change involving the alteration of a non-conserved nucleotide. Variant has been reported in ClinVar as Benign (★).

• Frequency: Genomes: 𝑓 0.30 (7363 hom., cov: 0)
• Consequence: PDCD1 NM_005018.3 intron
• Clinical Significance: Benign criteria provided, single submitter B:1
• Conservation: PhyloP100: -0.216

Genes affected

PDCD1 (HGNC:8760): (programmed cell death 1) Programmed cell death protein 1 (PDCD1) is an immune-inhibitory receptor expressed in activated T cells; it is involved in the regulation of T-cell functions, including those of effector CD8+ T cells. In addition, this protein can also promote the differentiation of CD4+ T cells into T regulatory cells. PDCD1 is expressed in many types of tumors including melanomas, and has demonstrated to play a role in anti-tumor immunity. Moreover, this protein has been shown to be involved in safeguarding against autoimmunity, however, it can also contribute to the inhibition of effective anti-tumor and anti-microbial immunity. [provided by RefSeq, Aug 2020]

LOC105373977 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -10 ACMG points.

• BP6: Variant 2-241853266-GT-G is Benign according to our data. Variant chr2-241853266-GT-G is described in ClinVar as [Benign]. Clinvar id is 1252837.Status of the report is criteria_provided_single_submitter, 1 stars.
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.355 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
PDCD1	NM_005018.3	c.77-287delA		intron_variant		ENST00000334409.10	NP_005009.2
PDCD1	XM_006712573.3	c.77-287delA		intron_variant			XP_006712636.1
LOC105373977	XR_924076.2	n.289delT		non_coding_transcript_exon_variant	1/2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt
PDCD1	ENST00000334409.10	c.77-287delA		intron_variant		1	NM_005018.3	ENSP00000335062.5
PDCD1	ENST00000418831.1	n.77-287delA		intron_variant		1		ENSP00000390296.1

Frequencies

GnomAD3 genomes AF: 0.302 AC: 45893 AN: 152128 Hom.: 7365 Cov.: 0

Gnomad AFR AF: 0.199

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.282

Gnomad ASJ AF: 0.298

Gnomad EAS AF: 0.157

Gnomad SAS AF: 0.369

Gnomad FIN AF: 0.415

Gnomad MID AF: 0.339

Gnomad NFE AF: 0.356

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.302 AC: 45926 AN: 152246 Hom.: 7363 Cov.: 0 AF XY: 0.305 AC XY: 22703 AN XY: 74450

Gnomad4 AFR AF: 0.199

Gnomad4 AMR AF: 0.282

Gnomad4 ASJ AF: 0.298

Gnomad4 EAS AF: 0.157

Gnomad4 SAS AF: 0.369

Gnomad4 FIN AF: 0.415

Gnomad4 NFE AF: 0.356

Gnomad4 OTH AF: 0.297

Alfa AF: 0.327 Hom.: 1053

Bravo AF: 0.283

Asia WGS AF: 0.268 AC: 933 AN: 3478

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

Nov 12, 2018

- -

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: rs5839829; hg19: chr2-242795418;