rs200975172

Variant names:

• chr6-49606843-A-C
• rs200975172
• NM_000324.3:c.1212+5T>G

Your query was ambiguous. Multiple possible variants found:

• chr6-49606843-A-C
• chr6-49606843-A-G
• chr6-49606843-A-T

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2 BP4_Moderate

The NM_000324.3(RHAG):​c.1212+5T>G variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: not found (cov: 33)
• Consequence: RHAG NM_000324.3 splice_region, intron
• Scores: Splicing: ADA: 0.0002846
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.500

Genes affected

RHAG (HGNC:10006): (Rh associated glycoprotein) The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009]

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (MetaRNN=0.09656817).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
RHAG	NM_000324.3	c.1212+5T>G		splice_region_variant, intron_variant	Intron 9 of 9	ENST00000371175.10	NP_000315.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
RHAG	ENST00000371175.10	c.1212+5T>G		splice_region_variant, intron_variant	Intron 9 of 9	1	NM_000324.3	ENSP00000360217.4
RHAG	ENST00000646272.1	c.1217T>G	p.Leu406Arg	missense_variant	Exon 9 of 10			ENSP00000494337.1
RHAG	ENST00000646963.1	c.1138+307T>G		intron_variant	Intron 8 of 8			ENSP00000495337.1
RHAG	ENST00000646939.1	c.*34+5T>G		splice_region_variant, intron_variant	Intron 8 of 8			ENSP00000494709.1

Frequencies

GnomAD3 genomes Cov.: 33

GnomAD4 exome Cov.: 27

GnomAD4 genome Cov.: 33

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.74
CADD	Benign	13
DANN	Benign	0.79
FATHMM_MKL	Benign	0.090	N
LIST_S2	Benign	0.26	T
MetaRNN	Benign	0.097	T
GERP RS		2.6

Splicing

Name	Calibrated prediction	Score	Prediction
dbscSNV1_ADA	Benign	0.00028
dbscSNV1_RF	Benign	0.056
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: rs200975172; hg19: chr6-49574556;