rs2181204

Positions:

• chr10-79944756-A-G
• chr10-79944756-A-T

Variant summary

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

The NM_003019.5(SFTPD):​c.199+1705T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.181 in 152,028 control chromosomes in the GnomAD database, including 3,208 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 0.18 (3208 hom., cov: 32)
• Consequence: SFTPD NM_003019.5 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.47

Genes affected

SFTPD (HGNC:10803): (surfactant protein D) The protein encoded by this gene is part of the innate immune response, protecting the lungs against inhaled microorganisms and chemicals. The encoded protein may also be involved in surfactant metabolism. [provided by RefSeq, Jul 2015]

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.394 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SFTPD	NM_003019.5	c.199+1705T>C		intron_variant		ENST00000372292.8
SFTPD	XM_011540087.2	c.199+1705T>C		intron_variant
SFTPD	XM_011540088.3	c.199+1705T>C		intron_variant

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SFTPD	ENST00000372292.8	c.199+1705T>C		intron_variant		1	NM_003019.5	P1

Frequencies

GnomAD3 genomes AF: 0.181 AC: 27448 AN: 151910 Hom.: 3196 Cov.: 32

Gnomad AFR AF: 0.283

Gnomad AMI AF: 0.0548

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.178

Gnomad EAS AF: 0.409

Gnomad SAS AF: 0.306

Gnomad FIN AF: 0.0614

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.102

Gnomad OTH AF: 0.173

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

GnomAD4 genome AF: 0.181 AC: 27506 AN: 152028 Hom.: 3208 Cov.: 32 AF XY: 0.184 AC XY: 13681 AN XY: 74320

Gnomad4 AFR AF: 0.283

Gnomad4 AMR AF: 0.233

Gnomad4 ASJ AF: 0.178

Gnomad4 EAS AF: 0.408

Gnomad4 SAS AF: 0.306

Gnomad4 FIN AF: 0.0614

Gnomad4 NFE AF: 0.102

Gnomad4 OTH AF: 0.179

Alfa AF: 0.108 Hom.: 323

Bravo AF: 0.198

Asia WGS AF: 0.332 AC: 1152 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.13
DANN	Benign	0.67

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: rs2181204; hg19: chr10-81704512;