chr19-49440521-G-A

Variant names:

• chr19-49440521-G-A
• rs11672810
• NM_020309.4:c.62+797C>T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_020309.4(SLC17A7):​c.62+797C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.343 in 151,860 control chromosomes in the GnomAD database, including 9,389 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 0.34 (9389 hom., cov: 31)
• Consequence: SLC17A7 NM_020309.4 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.26
• Publications: 6 publications found

Genes affected

SLC17A7 (HGNC:16704): (solute carrier family 17 member 7) The protein encoded by this gene is a vesicle-bound, sodium-dependent phosphate transporter that is specifically expressed in the neuron-rich regions of the brain. It is preferentially associated with the membranes of synaptic vesicles and functions in glutamate transport. The protein shares 82% identity with the differentiation-associated Na-dependent inorganic phosphate cotransporter and they appear to form a distinct class within the Na+/Pi cotransporter family. [provided by RefSeq, Jul 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.375 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_020309.4. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC17A7	NM_020309.4	MANE Select	c.62+797C>T		intron	N/A	NP_064705.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SLC17A7	ENST00000221485.8	TSL:1 MANE Select	c.62+797C>T		intron	N/A	ENSP00000221485.2
	SLC17A7	ENST00000969901.1		c.62+797C>T		intron	N/A	ENSP00000639960.1
	SLC17A7	ENST00000969902.1		c.62+797C>T		intron	N/A	ENSP00000639961.1

Frequencies

GnomAD3 genomes AF: 0.343 AC: 52041 AN: 151742 Hom.: 9386 Cov.: 31

Gnomad AFR AF: 0.324

Gnomad AMI AF: 0.523

Gnomad AMR AF: 0.383

Gnomad ASJ AF: 0.436

Gnomad EAS AF: 0.0700

Gnomad SAS AF: 0.177

Gnomad FIN AF: 0.324

Gnomad MID AF: 0.385

Gnomad NFE AF: 0.372

Gnomad OTH AF: 0.399

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

GnomAD4 genome AF: 0.343 AC: 52079 AN: 151860 Hom.: 9389 Cov.: 31 AF XY: 0.337 AC XY: 24978 AN XY: 74222

African (AFR) AF: 0.323 AC: 13381 AN: 41370

American (AMR) AF: 0.383 AC: 5847 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.436 AC: 1511 AN: 3468

East Asian (EAS) AF: 0.0700 AC: 362 AN: 5172

South Asian (SAS) AF: 0.179 AC: 863 AN: 4814

European-Finnish (FIN) AF: 0.324 AC: 3420 AN: 10550

Middle Eastern (MID) AF: 0.390 AC: 114 AN: 292

European-Non Finnish (NFE) AF: 0.372 AC: 25278 AN: 67920

Other (OTH) AF: 0.393 AC: 827 AN: 2102

Alfa AF: 0.350 Hom.: 2329

Bravo AF: 0.353

Asia WGS AF: 0.143 AC: 500 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.076
DANN	Benign	0.63
PhyloP100		-1.3
Mutation Taster		=100/0	polymorphism (auto)

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: rs11672810; hg19: chr19-49943778;